References
Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor MJ, Pyeritz RE, Korf BR, Emery AEH, editors. Principles and practice of medical genetics. New York: Churchill Livingstone Publishers; 2002. p. 3810–997.
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931–50.
Uitto J, Richard G. Progress in Epidermolysis Bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005;23:33–40.
Pfendner EG, Lucky AW (updated Nov 4 2010) Dystrophic epidermolysis bullosa. In: GeneReviews at Genetests: Medical information resource (database online). Copyright University of Washington, Seattle. 1997–2010. Available at http://www.genetests.org (accessed on December 2010).
Christiano AM, Greenspan DS, Lee S, Uitto J. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem. 1994;269:20256–62.
Dang N, Murrel DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol. 2008;17:553–68.
Chiaverini C, Charlesworth AV, Youssef M, Cuny JF, Rabia SH, Lacour JP, et al. Inversa Dystrophic Epidermolysis Bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII. J Invest Dermatol. 2010;130:2508–11.
Van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, et al. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet. 2011;48:160–7.
Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.
Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod BioMed Online 2008;16:134–47.
Harper JC, Coonen E, De Rycke M, Harton G, Moutou C, Pehlivan T, et al. ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod. 2010;25:2685–707.
Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD Consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26:33–40.
ISO 9001. Quality management systems-requirements. Geneva: International Organization for Standarization; 2008.
Vendrell X, Carrero R, Alberola T, Bautista-Llácer R, García-Mengual E, Claramunt R, et al. Quality management system in PGD/PGS: now is the time. J Assist Reprod Genet. 2009;26:197–204.
Cui XF, Li HH, Goradia TM, Lange K, Kazazian Jr HH, Galas D, et al. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A. 1989;86:9389–93.
Alberola TM, Bautista-Llácer R, Fernández E, Vendrell X, Pérez-Alonso M. Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet. 2009;26:263–71.
Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. Pediatr Dermatol. 2003;20:243–8.
Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, et al. High frequency of the 425A>G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. Br J Dermatol. 2005;152:879–86.
Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis Bullosa II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181–92.
Gedde-Dahl Jr T. Epidermolysis bullosa. A clinical, genetic and epidermiological study. Baltimore: Johns Hiopkins University Press; 1971.
Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive Dystrophic Epidermolysis Bullosa. Am J Hum Genet. 1996;59:292–300.
Hammami-Hausasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, et al. A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol. 1997;109:384–9.
Bautista-Llácer R, Alberola TM, Vendrell X, Fernández E, Pérez-Alonso M. Case report: first successful application of preimplantation genetic diagnosis for hereditary angioedema. Reprod Biomed Online. 2010;21:658–62.
Fassihi H, Liu L, Renwick PJ, McGrath JA. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol. 2010;162:1330–6.
Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24(5):1221–8.
Conflicts of interest
None declared.
Author information
Authors and Affiliations
Corresponding author
Additional information
Capsule Description of the molecular characterisation of a patient affected of dystrophic epidermolysis bullosa inversa followed by preimplantation genetic diagnosis in the family.
Rights and permissions
About this article
Cite this article
Vendrell, X., Bautista-Llácer, R., Alberola, T.M. et al. Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J Assist Reprod Genet 28, 825–832 (2011). https://doi.org/10.1007/s10815-011-9601-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-011-9601-1