Skip to main content
SpringerLink
Log in

Trichothiodystrophy

  • Chapter
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

Trichothiodystrophy (TTD) is a term introduced by Vera Price and coworkers in 1980 (Price et al. 1980) to describe a group of autosomal recessive neuroectodermal disorders whose defining feature is brittle hair with a cystein content less than half of normal. The designation derives from Greek: tricho, hair; thio, sulfur; dys, faulty; and trophe, nourishment.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 269.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 349.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Allen R (1971) Neurocutaneous syndromes in children. Postgrad Med 50: 83–89.

    PubMed  CAS  Google Scholar 

  • Andressoo JO, Hoeijmakers JH, Mitchell JR (2006a) Nucleotide excision repair disorders and the balance between cancer and aging. Cell Cycle 5: 2886–2888.

    PubMed  CAS  Google Scholar 

  • Andressoo JO, Jans J, deWit J, Coin F, Hoogstraten D, van de Ven M, Toussaint W, Huijmans J, Thio HB, van Leeuwen WJ, de Boer J, Egly JM, Hoeijmakers JH, van der Horst GT, Mitchell JR (2006b) Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol 4: e322.

    Article  PubMed  CAS  Google Scholar 

  • Arbisser AI, Scott CI Jr, Howell RR, Ong PS, Cox HL Jr (1976) A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects Orig Artic Ser 12: 219–228.

    PubMed  CAS  Google Scholar 

  • Backendorf C, de Wit J, van Oosten M, Stout GJ, Mitchell JR, Borgstein AM, van der Horst GT, de Gruijl FR, Brouwer J, Mullenders LH, Hoeijmakers JH (2005) Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice.DNA Repair 4: 1325–1336.

    Article  PubMed  CAS  Google Scholar 

  • Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJ (1976) The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet 28: 514–521.

    PubMed  CAS  Google Scholar 

  • Bastien J, Adam-Stitah S, Riedl T, Egly JM, Chambon P, Rochette-Egly C (2000) TFIIH interacts with the retinoic acid receptor gamma and phosphorylates its AF-1-activating domain through cdk7. J Biol Chem 275: 21896–21904.

    Article  PubMed  CAS  Google Scholar 

  • Battistella PA, Peserico A (1996) Central nervous system dysmyelination in PIBI(D)S syndrome: a further case. Childs Nerv Syst 12: 110–113.

    Article  PubMed  CAS  Google Scholar 

  • Bergmann E, Egly JM (2001) Trichothiodystrophy, a transcription syndrome.Trends Genet 17: 279–286.

    Article  PubMed  CAS  Google Scholar 

  • Bootsma D, Hoeijmakers JH (1993) DNA repair. Engagement with transcription. Nature 363: 114–115.

    Article  PubMed  CAS  Google Scholar 

  • Bootsma D, Hoeijmakers JH (1994) The molecular basis of nucleotide excision repair syndromes. Mutat Res 307: 15–23.

    PubMed  CAS  Google Scholar 

  • Botta E, Nardo T, Broughton B, Marinoni S, Lehmann AR, Stefanini M (1998) Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity. Am J Hum Genet 63: 1036–1048.

    Article  PubMed  CAS  Google Scholar 

  • Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M (2002) Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet 11: 2919–2928.

    Article  PubMed  CAS  Google Scholar 

  • Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NGJ, Sarasin A, Lehmann AR, Stefanini M (2007) Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat 28: 92–96.

    Article  PubMed  CAS  Google Scholar 

  • Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M (1981) Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings. Hautarzt 32: 67–74.

    PubMed  CAS  Google Scholar 

  • Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR (1994) Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 7: 189–194.

    Article  PubMed  CAS  Google Scholar 

  • Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 10: 2539–2547.

    Article  PubMed  CAS  Google Scholar 

  • Brown AC, Belser RB, Crounse RG, Wehr RF (1970) A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol 54: 496–509.

    Article  PubMed  CAS  Google Scholar 

  • Busso D, Keriel A, Sandrock B, Poterszman A, Gileadi O, Egly JM (2000) Distinct regions of MAT1 regulate cdk7 kinase and TFIIH transcription activities. J Biol Chem 275: 22815–22823.

    Article  PubMed  CAS  Google Scholar 

  • Calvieri S, Rossi A, Amorosi B, Giustini S, Innocenzi D, Micali G (1993) Trichothiodystrophy: ultrastructural studies of two patients. Pediatr Dermatol 10: 111–116.

    Article  PubMed  CAS  Google Scholar 

  • Chapman S (1988) The trichothiodystrophy syndrome of Pollitt. Pediatr Radiol 18: 154–156.

    Article  PubMed  CAS  Google Scholar 

  • Chen D, Riedl T, Washbrook E, Pace PE, Coombes RC, Egly JM, Ali S (2000) Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7. Mol Cell 6: 127–137.

    Article  PubMed  CAS  Google Scholar 

  • Cleaver JE (2005) Splitting hairs-discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy. DNA Repair 4: 285–287.

    Article  PubMed  CAS  Google Scholar 

  • Coin F, Egly JM (1998) Ten years of TFIIH. Cold Spring Harb Symp Quant Biol 63: 105–110.

    Article  PubMed  CAS  Google Scholar 

  • Coin F, Egly JM (2003) Assay of promoter melting and extension of mRNA: role of TFIIH subunits. Methods Enzymol 370: 713–733.

    Article  PubMed  CAS  Google Scholar 

  • Coin F, Proietti De Santis L, Nardo T, Zlobinskaya O, Stefanini M, Egly JM (2006) p8/TTD-A as a repairspecific TFIIH subunit. Molecular Cell 21: 215–226.

    Article  PubMed  CAS  Google Scholar 

  • Coin F, Oksenych V, Egly JM (2007) Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. Mol Cell 26: 245–256.

    Article  PubMed  CAS  Google Scholar 

  • Compe E, Drané P, Laurent C, Diderich K, Braun C, Hoeijmakers JH, Egly JM (2005) Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations. Mol Cell Biol 25: 6065–6076.

    Article  PubMed  CAS  Google Scholar 

  • Crovato F, Borrone C, Rebora A (1983) Trichothiodystrophy-BIDS, IBIDS and PIBIDS? Br J Dermatol 108: 247.

    Article  PubMed  CAS  Google Scholar 

  • Crovato F, Rebora A (1985) PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system. J Am Acad Dermatol 13: 683–686.

    Article  PubMed  CAS  Google Scholar 

  • de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, Lehmann AR, Duran M, Hoeijmakers JH, Weeda G (1998) A mouse model for the basal transcription/ DNA repair syndrome trichothiodystrophy. Mol Cell 1: 981–990.

    Article  PubMed  Google Scholar 

  • de Boer J Andressoo JO de Wit J Huijmans J Beems RB van Steeg H Weeda G van der Horst GT van Leeuwen W Themmen AP Meradji M Hoeijmakers JH 2002 Premature aging in mice deficient in DNA repair and transcription. Science 296 1276–1279.

    Google Scholar 

  • Drané P, Compe E, Catez P, Chymkowitch P, Egly JM (2004) Selective regulation of vitamin D receptor-responsive genes by TFIIH. Mol Cell 16: 187–197.

    Article  PubMed  Google Scholar 

  • Dubaele S, Proietti de Santis L, Bienstock RJ, Keriel A, Stefanini M, van Houtten B, Egly JM (2003) Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. Mol Cell 11: 1635–1646.

    Article  PubMed  CAS  Google Scholar 

  • Egly JM (2001) The 14th Datta Lecture. TFIIH: from transcription to clinic. FEBS Lett 498: 124–128.

    Article  PubMed  CAS  Google Scholar 

  • Fois A, Balestri P, Calvieri S, Zampetti M, Giustini S, Stefanini M and Lagomarsini P (1988) Trichothiodystrophy without photosensitivity: biochemical, ultrastructural and DNA repair studies. Eur J Pediatr 147: 439–441.

    Article  PubMed  CAS  Google Scholar 

  • Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC (1994) Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet 3: 1783–1788.

    Article  PubMed  CAS  Google Scholar 

  • Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, Ellenberger T (2006) Other diseases associated with defects in nucleotide excision repair of DNA. In: DNA repair and mutagenesis.Washington, DC: ASM Press, pp. 895–918.

    Google Scholar 

  • Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (2004) A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 36: 714–719.

    Article  PubMed  CAS  Google Scholar 

  • Giglia-Mari G, Miquel C, Theil AF, Mari PO, Hoogstraten D, Ng JM, Dinant C, Hoeijmakers JH, Vermeulen W (2006) Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. Plos Biol 4: e156. Epub 2006 May 9.

    Article  PubMed  CAS  Google Scholar 

  • Happle R, Traupe H, Grobe H, Bonsmann G (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 141: 147–152.

    Article  PubMed  CAS  Google Scholar 

  • Hoeijmakers JH, Egly JM, Vermeulen W (1996) TFIIH: a key component in multiple DNA transactions. Curr Opin Genet Dev 6: 26–33.

    Article  PubMed  CAS  Google Scholar 

  • Howell RR, Arbisser AI, Parsons DS, Scott CI, Fraustadt U, Collie WR, Marshall RN, Ibarra OC (1981) The Sabinas syndrome. Am J Hum Genet 33: 957–967.

    PubMed  CAS  Google Scholar 

  • Iben S, Tschochner H, Bier M, Hoogstraten D, Hozak P, Egly JM, Grummt I (2002) TFIIH plays an essential role in RNA polymerase I transcription. Cell 109: 297–306.

    Article  PubMed  CAS  Google Scholar 

  • Itin PH, Sarasin A, Pittelkow MR (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44: 891–920.

    Article  PubMed  CAS  Google Scholar 

  • Jackson CE, Weiss L, Watson JH (1974) “Brittle” hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54: 201–207.

    PubMed  CAS  Google Scholar 

  • Jorizzo JL, Crounse RG, Wheeler CE Jr (1980) Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. J Am Acad Dermatol 2: 309–317.

    PubMed  CAS  Google Scholar 

  • Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106: 705–710.

    Article  PubMed  CAS  Google Scholar 

  • Keriel A, Stary A, Sarasin A, Rochette-Egly C, Egly JM (2002) XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RAR-alpha. Cell 109: 125–135.

    Article  PubMed  CAS  Google Scholar 

  • Kraemer KH (2004) From proteomics to disease. Nat Genet 36: 677–678.

    Article  PubMed  CAS  Google Scholar 

  • Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJA (2007a) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145: 1388–1396.

    Article  PubMed  CAS  Google Scholar 

  • Kraemer KH, Sander M, Bohr VA (2007b) New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging. Mech Ageing Dev 128: 229–235.

    Article  PubMed  Google Scholar 

  • Lainé JP, Mocquet V, Egly JM (2006) TFIIH enzymatic activities in transcription and nucleotide excision repair. Methods Enzymol 408: 246–263.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR, Arlett CF, Broughton BC, Harcourt SA, Steingrimsdottir H, Stefanini M, Taylor AMR, Natarajan AT, Green S, King MD, McKie RM, Stephenson JBP, Tolmie JL (1988) Trichothiodystrophy: a human DNA-repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res 48: 6090–6096.

    PubMed  CAS  Google Scholar 

  • Lehmann AR (1989) Trichothiodystrophy and the relationship between DNA repair and cancer. Bioessays 11: 168–170.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR (1995) Nucleotide excision repair and the link with transcription. Trends Biochem Sci 20: 402–405.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR (1998) Dual functions of DNA repair genes: molecular, cellular, and clinical implications. Bioessays 20: 146–155.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 15: 15–23.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR (2003) DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 85: 1101–1111.

    Article  PubMed  CAS  Google Scholar 

  • Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ (2005) Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 52: 224–232.

    Article  PubMed  Google Scholar 

  • Liang C, Morris A, Schlucker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ (2006) Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 126: 2210–2216.

    Article  PubMed  CAS  Google Scholar 

  • Liu J, He L, Collins I, Ge H, Libutti D, Li J, Egly JM, Levens D (2000) The FBP interacting repressor targets TFIIH to inhibit activated transcription. Mol Cell 5: 331–341.

    Article  PubMed  CAS  Google Scholar 

  • Liu J, Akoulitchev S, Weber A, Ge H, Chuikov S, Libutti D, Wang XW, Conaway JW, Harris CC, Conaway RC, Reinberg D, Levens D (2001) Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. Cell 104: 353–363.

    Article  PubMed  CAS  Google Scholar 

  • Mariani E, Facchini A, Honorati MC, Lalli E, Berardesca E, Ghetti P, Marinoni S, Nuzzo F, Astaldi Ricotti GCB, Stefanini M (1992) Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy. Clinical Exp Immunol 88: 376–382.

    Article  CAS  Google Scholar 

  • Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, raams A, Les C, Seboun E, Jaspers NGJ, Beckmann JS, Jackson CE, Scherer SW (2005) Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 76: 510–516.

    Article  PubMed  CAS  Google Scholar 

  • Nuzzo F, Stefanini M, Rocchi M, Casati A, Colognola R, Lagomarsini P, Marinoni S, Scozzari R (1988) Chromosome and blood marker studies in families of pa trantients affected by xeroderma pigmentosum and trichothiodystrophy. Mutat Res 208: 159–161.

    Article  PubMed  CAS  Google Scholar 

  • Nuzzo F, Zei G, Stefanini M, Colognola R, Santachiara AS, Lagomarsini P, Marinoni S, Salvaneschi L (1990) Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum. J Med Genet 27: 21–25.

    Article  PubMed  CAS  Google Scholar 

  • Ostergaard JR, Christensen T (1996) The central nervous system in Tay syndrome. Neuropediatrics 27: 326–330.

    Article  PubMed  CAS  Google Scholar 

  • Peserico A, Battistella PA, Bertoli P (1992) MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. Neuroradiology 34: 316–317.

    Article  PubMed  CAS  Google Scholar 

  • Pollitt RJ, Jenner FA, Davies M (1968) Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 43: 211–216.

    Article  PubMed  CAS  Google Scholar 

  • Porto L, Weis R, Schulz C, Reichel P, Lanfermann H, Zanella FE (2000) Tay’s syndrome: MRI. Neuroradiology 42: 849–851.

    Article  PubMed  CAS  Google Scholar 

  • Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116: 1375–1384.

    Article  PubMed  CAS  Google Scholar 

  • Racioppi L, Cancrini C, Romiti ML, Angelini F, DiCesare S, Bertini E, Livadiotti S, Gambarara MG, Matarese G, Lago Paz F, Stefanini M, Rossi P (2001) Defective Dendritic Cell Maturation in a Child with DNA-excision repair deficiency and CD4 lymphopenia. Clin Exp Immunol 126: 511–518.

    Article  PubMed  CAS  Google Scholar 

  • Ranish JA, Hahn S, Lu Y, Yi EC, Li XJ, Eng J, Aebersold R (2004) Identification of TFB5, a new component of general transcription and DNA repair factor IIH. Nat Genet 36: 707–713.

    Article  PubMed  CAS  Google Scholar 

  • Richetta A, Giustini S, Rossi A, Calvieri S (2001) What’s new in trichothiodystrophy. J Eur Acad Dermatol Venereol 15: 1–4.

    Article  PubMed  CAS  Google Scholar 

  • Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG (1974) Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 80: 221–248.

    PubMed  CAS  Google Scholar 

  • Salfeld K, Lindley MJ (1963) On the problem of combination of symptoms in ichthyosis vulgaris with bambolo hair formation and ectodermal dysplasia. Dermatol Wochenschr 147: 118–128.

    PubMed  CAS  Google Scholar 

  • Sass JO, Skladal D, Zelger B, Romani N, Utermann B (2004) Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. Arch Dermatol Res 296: 188–191.

    PubMed  CAS  Google Scholar 

  • Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, Hoeijmakers JH, Chambon P, Egly JM (1993) DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260: 58–63.

    Article  PubMed  CAS  Google Scholar 

  • Schaeffer L, Moncollin V, Roy R, Staub A, Mezzina M, Sarasin A, Weeda G, Hoeijmakers JH, Egly JM (1994) The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J 13: 2388–2392.

    PubMed  CAS  Google Scholar 

  • Schlucker S, Liang C, Strehle KR, DiGiovanna JJ, Kraemer KH, Levin IW (2006) Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy. Biopolymers 82: 615–622.

    Article  PubMed  CAS  Google Scholar 

  • Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett C, Muller H (1993) Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 29: 883–889.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F (1986) Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Human Genetics 74: 107–112.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini M, Lagomarsini P, Giorgi R, Nuzzo F (1987) Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity. Mutat Res 191: 117–119.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini M, Lagomarsini P, Nuzzo F (1989) Genetic analysis in trichothiodystrophy repair deficient cells confirms the occurrence of xeroderma pigmentosum group D mutation in unrelated patients. In: Lambert MW, Laval J (eds.) DNA repair mechanisms and their biological implication in mammalian cells. New York: Plenum Press, pp. 523–533.

    Google Scholar 

  • Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G (1992) DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res 273: 119–125.

    PubMed  CAS  Google Scholar 

  • Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A (1993a) Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis 14: 1101–1105.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JHJ, Lehmann AR (1993b) A new nucleotide excision repair gene associated with the genetic disorder trichothiodystrophy. Am J Human Genet 53: 817–821.

    CAS  Google Scholar 

  • Stefanini M (2006) Trichothiodystrophy, a disorder highlighting the crosstalk between DNA repair and trantients scription. In: Balajee A (ed.) DNA repair and human diseases. Landes Bioscience, pp. 30–46.

    Google Scholar 

  • Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH,Weber CA (1996) Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet 58: 263–270.

    PubMed  CAS  Google Scholar 

  • Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA (1997) DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Hum Mutat 9: 519–525.

    Article  PubMed  CAS  Google Scholar 

  • Tay CH (1971) Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol 104: 4–13.

    Article  PubMed  CAS  Google Scholar 

  • Taylor E, Broughton B, Botta E, Stefanini M, Sarasin A, Jaspers NGJ, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR (1997) Genotype-phenotype relationships in the xeroderma pigmentosum group D (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA 94: 8658–8663.

    Article  PubMed  CAS  Google Scholar 

  • Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB (1994) Syndromes associated with trichothiodystrophy. Clin Dysmorphol 3: 1–14.

    Article  PubMed  CAS  Google Scholar 

  • Van der Knaap M, Valk J (2005) Trichothiodystrophy with photosensitivity. In: van der Knaap M, Valk J (eds.) Magnetic resonance of myelination and myelin disorders, 3rd edn. Berlin: Springer-Verlag, pp. 268–271.

    Google Scholar 

  • Van Neste D de Greef H van Haute N van Hee J van der Maesen J Taieb A Maleville J Fontan D Bakry N Gillespie JM Marshall RC (1989) High sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy. In: Van Neste D (ed.)Trends in human hair and alopecia research. Dordrecht: Kluwer Academic pp. 195–206.

    Google Scholar 

  • Vermeulen W, van Vuuren AJ, Chipoulet M, Schaeffer L, Appeldoorn E, Weeda G, Jaspers NGJ, Priestley A, Arlett CF, Lehmann AR, Stefanini M, Mezzina M, Sarasin A, Bootsma D, Egly JM, Hoeijmakers JHJ (1994a) Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb Sym 59: 317–329.

    CAS  Google Scholar 

  • Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ, Bootsma D, Hoeijmakers JH, Weeda G (1994b) Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 54: 191–200.

    PubMed  CAS  Google Scholar 

  • Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (2000) Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet 26: 307–313.

    Article  PubMed  CAS  Google Scholar 

  • Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH (2001) A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 27: 299–303.

    Article  PubMed  CAS  Google Scholar 

  • Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR (2001) Mutations in the general transcription factor TFIIH result in _-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 10: 2797–2802.

    Article  PubMed  CAS  Google Scholar 

  • Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A, Kieffer B (2007) Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. J Mol Biol 368: 473–480.

    Article  PubMed  CAS  Google Scholar 

  • Wagner AM (2006) Xeroderma pigmentosum, Cockayne’s syndrome and Trichothiodystrophy. In: Harper J, Oranje A, Prose N (eds.) Textbook of pediatric dermatology, 2nd edn, Vol. 2, Oxford: Blackwell Science, pp. 1557–1582.

    Google Scholar 

  • Wakeling EL, Cruwys M, Suri M, Brady AF, Aylett SE, Hall C (2004) Central osteosclerosis with trichothiodystrophy. Pediatr Radiol 34: 541–546.

    Article  PubMed  Google Scholar 

  • Weber A, Liu J, Collins I, Levens D (2005) TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression. Mol Cell Biol 25: 147–161.

    Article  PubMed  CAS  Google Scholar 

  • Weber CA, Salazar EP, Stewart SA, Thompson LH (1990) ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J 9: 1437–1447.

    PubMed  CAS  Google Scholar 

  • Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A (1997) A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet 60: 320–329.

    PubMed  CAS  Google Scholar 

  • Wijnhoven SW, Beems RB, Roodbergen M, van den Berg J, Lohman PH, Diderich K, van der Horst GT, Vijg J, Hoeijmakers JH, van Steeg H (2005) Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. DNA Repair 4: 1314–1324.

    Article  PubMed  CAS  Google Scholar 

  • Yoder K, Sarasin A, Kraemer K, McIlhatton M, Bushman F, Fishel R (2006) The DNA repair genes XPB and XPD defend cells from retroviral infection. Proc Natl Acad Sci USA 103: 4622–4627.

    Article  PubMed  CAS  Google Scholar 

  • Yoon HK, Sargent MA, Prendiville JS, Poskitt KJ (2005) Cerebellar and cerebral atrophy in trichothiodystrophy. Pediatr Radiol 35: 1019–1023.

    Article  PubMed  Google Scholar 

  • Zurita M, Merino C (2003) The transcriptional complexity of the TFIIH complex.Trends Genet 19: 578–584.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Molecular Genetics, National Research Council of Italy, Pavia

    Miria Stefanini

  2. Institute of Neurological Science, National Research Council of Italy, Italy

    Miria Stefanini

  3. Department of Pediatrics, University of Catania, Catania, Italy

    Martino Ruggieri

Authors
  1. Miria Stefanini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Martino Ruggieri
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer-Verlag/Wien

About this chapter

Cite this chapter

Stefanini, M., Ruggieri, M. (2008). Trichothiodystrophy. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_53

Download citation

  • DOI: https://doi.org/10.1007/978-3-211-69500-5_53

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation