Human Genetics

, Volume 74, Issue 2, pp 107–112 | Cite as

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity

  • M. Stefanini
  • P. Lagomarsini
  • C. F. Arlett
  • S. Marinoni
  • C. Borrone
  • F. Crovato
  • G. Trevisan
  • G. Cordone
  • F. Nuzzo
Original Investigations

Summary

We studied the response to UV irradiation in cells from four patients, from three apparently unrelated families, affected by trichothiodystrophy (TTD). They showed all the symptoms of this rare autosomal recessive disorder (brittle hair with reduced sulfur content, mental and physical retardation, ichthyosis, peculiar face) together with photosensitivity. We found a decreased rate of duplicative DNA synthesis in stimulated lymphocytes, reduced survival in fibroblasts, and very low levels of unscheduled DNA synthesis (UDS) in Go lymphocytes and fibroblasts after UV irradiation. Complementation studies showed that normal values of UDS are restored in heterokaryons obtained by fusion of TTD cells with normal and xeroderma pigmentosum (XP)-complementation group A-cells. In contrast the defect is not complemented by fusion with XP-complementation group D-fibroblasts.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Andrews AD, Barret SF, Yoder FW, Robbins JH (1978) Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol 70:237–239Google Scholar
  2. Arlett CF, Lehmann AR, Giannelli F, Ramsay CA (1978) A human subject with a new defect in repair of ultraviolet damage. J Invest Dermatol 70:173–177Google Scholar
  3. Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJM (1976) The physiochemical properties of hair in the BIDS syndrome. Am J Hum Genet 28:514–521Google Scholar
  4. Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M (1981) Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptions-störungen. Hautarzt 32:67–74Google Scholar
  5. Calderon R, Gonzalez-Cantú N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non-progressive mental retardation. J Pediatr 95:1007–1008Google Scholar
  6. Cleaver JE (1983) Xeroderma pigmentosum. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basic of inherited disease, 5th edn. McGraw-Hill, New York, pp 1227–1248Google Scholar
  7. Cleaver JE, Bootsma D (1975) Xeroderma pigmentosum: biochemical and genetic characteristics. Annu Rev Genet 9:19–33Google Scholar
  8. Crovato F, Borrone C, Rebora A (1983) Trichothiodystrophy — BIDS, IBIDS and PIBIDS? Br J Dermatol 108:247Google Scholar
  9. 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 4:683–685Google Scholar
  10. Diaz-Perez JL, Vasquez JA (1983) Flattened hair syndrome: a new disease. Arch Dermatol 119:854–855Google Scholar
  11. Diem E, Fritsch P (1973) Xeroderma pigmentosum, universelle Haarlosigkeit und assoziierte neuro-oculäre Symptomatik. Hautarzt 24:204–207Google Scholar
  12. Happle R, Traupe H, Gröbe H, Bonsmann G (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 141:147–152Google Scholar
  13. Howell RR, Arbisser AI, Parsons DS, Scott CI, Fraustadt U, Collie WR, Marshall RN, Ibarra OC (1981) The Sabinas syndrome. Am J Hum Genet 33:957–967Google Scholar
  14. Fois A, Giorgi D, Balestri P, Farnetani MA, Calvieri S (1984) A propos d'un cas de Tricotiodystrophie. VIIIème Réunion de la Societé Européenne de Neurologie Infantile, Taormina 1984 (abstr)Google Scholar
  15. Fujiwara Y (1981) A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Dermatol 77:256–263Google Scholar
  16. Giannelli F, Pawsey SA, Avery JA (1982) Differences in the patterns of complementation of the more common groups of xeroderma pigmentosum. Possible implications. Cell 29:451–454Google Scholar
  17. Jackson CE, Weiss L, Watson JHL (1974) “Brittle” hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54: 201–207Google Scholar
  18. Jorizzo JL, Crounse RG, Wheeler CE (1980) Lamellar ichthyosis, dwarfism, mental retardation and hair shaft abnormalities. J Am Acad Dermatol 2:309Google Scholar
  19. Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBDS syndrome). Br J Dermatol 106:705–710Google Scholar
  20. King MD, Gummer CL, Stephenson JBP (1984) Trichothiodystrophy-neurotrichocutaneous syndrome of Pollit: a report of two unrelated cases. J Med Genet 21:286–289Google Scholar
  21. Kraemer KH, Slor H (1985) Xeroderma pigmentosum. Clin Dermatol 3:1–69Google Scholar
  22. Lehmann AR, Kirk-Bell S, Mayne L (1979) Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome. Cancer Res 39:4238–4241Google Scholar
  23. Leupold D (1979) Ichthyosis congenita, Katarakt, Schwachsinn, Ataxie, Osteosklerose und Abwehrdefekt—ein eigenständiges Syndrom? Monatsschr Kinderheilkd 127:307–308Google Scholar
  24. Lucky PA, Kirsch N, Lucky AW, Carter DM (1984) Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure. J Am Acad Dermatol 11:340–346Google Scholar
  25. Matsukuma S, Zelle B, Keijzer W, Berends F, Bootsma D (1981) Different rates of restoration of the repair capacity in complementing xeroderma pigmentosum cells after fusion. Exp Cell Res 134:103–112Google Scholar
  26. Moshell AN, Ganges MB, Lutzner MA, Coon HG, Barrett SF, Dupuy JM, Robbins JH (1983) A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H. Cellular response to DNA damage. Liss, New York, pp 209–213Google Scholar
  27. Pollit 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 43:211–216Google Scholar
  28. Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116:1375–1384Google Scholar
  29. Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG (1974) Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Intern Med 80:221–248Google Scholar
  30. Salfeld K, Lindley MJ (1963) Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung und ektodermaler Dysplasie. Dermatol Wochenschr 147:118–128Google Scholar
  31. Schmickel RD, Chu EHY, Trosko JE, Chang CC (1977) Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics 60: 135–139Google Scholar
  32. Stefanini M, Ascari E, Nuzzo F (1979) UV-induced repair in hairy cell leukaemia patients. Cancer Lett 7:235–241Google Scholar
  33. Stefanini M, Keijzer W, Dalprà L, Elli R, Nazzaro Porro M, Nicoletti B, Nuzzo F (1980) Differences in the level of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum. Hum Genet 54:177–182Google Scholar
  34. Stefanini M, Lagomarsini P, Marinoni S, Borrone C, Crovato F, Trevisan G, Nuzzo F (1985) Hypersensitivity to UV-irradiation in patients affected by trichothiodystrophy. XVIII Symposium of the European Society of Human Genetics, Budapest 1985 (abstr)Google Scholar
  35. Stefanini M, Orecchia G, Rabbiosi G, Nuzzo F (1986) Altered cellular response to UV irradiation in a patient affected by premature ageing. Hum Genet 73:189–192Google Scholar
  36. Tay CH (1971) Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. Arch Dermatol 104:4–13Google Scholar
  37. Trevisan G, Marinoni S, Capelli E, Gandini A, Levi N (1983) Fotosensibilità, alterazioni neurologiche e anomalie dei capelli in due sorelle. Boll Dermatol Pediatr 2:153–156Google Scholar
  38. Van Neste D, Boré P (1983) Trichothiodystropie: une étude morphologique et biochimique. Ann Dermatol Venereol 110:409–417Google Scholar
  39. Van Neste D, Caulier B, Thomas P, Vasseur F (1985) PIBIDS: Tay's syndrome and xeroderma pigmentosum. J Am Acad Dermatol 12:372–373Google Scholar
  40. Wade MH, Chu EHY (1979) Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome. Mutat Res 59:49–60Google Scholar
  41. Yong SL, Cleaver JE, Tullis GD, Johnston MM (1984) Is thrichothiodystrophy part of the xeroderma pigmentosum spectrum? Am J Hum Genet 36:82SGoogle Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • M. Stefanini
    • 1
  • P. Lagomarsini
    • 1
  • C. F. Arlett
    • 2
  • S. Marinoni
    • 3
  • C. Borrone
    • 4
  • F. Crovato
    • 5
  • G. Trevisan
    • 6
  • G. Cordone
    • 7
  • F. Nuzzo
    • 1
  1. 1.Istituto di Genetica Biochimica ed Evoluzionistica CNRPaviaItaly
  2. 2.MRC Cell Mutation Unit University of Sussex, FalmerBrightonUK
  3. 3.Istituto per l'InfanziaTriesteItaly
  4. 4.Istituto G. Gaslini Div. Pediatrica IIIGenovaItaly
  5. 5.Divisione DermatologicaOspedale ChiavariGenovaItaly
  6. 6.Clinica DermatologicaUniversità TriesteTriesteItaly
  7. 7.Istituto Clinica Pediatrica IUniversità GenovaGenovaItaly

Personalised recommendations