A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Neil Vincent Whittock*, Carron Sher, Isaac Gold, Vitalia Libman, Orit Reish

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Purpose: Generalized atrophic benign epidermolysis bullosa is a nonlethal form of junctional EB with an autosomal recessive inheritance. There is generalized cutaneous blister formation at sites of trauma, atrophic alopecia affecting scalp, eyelash and eyebrow, dystrophic nail changes, and tooth abnormalities. In this study, we have studied a five-generation Palestinian family affected with generalized atrophic benign epidermolysis bullosa. Methods: We have performed linkage analysis to genes that are mutated in generalized atrophic benign epidermolysis bullosa, followed by direct sequencing of patient genomic DNA. Results: We have shown that the disease is caused by a newly detected homozygous donor splice site mutation, IVS51+1G>A, in the type XVII collagen gene, COL17A1. Conclusion: The effect of a founder mutation introduced 3 to 4 generations before a disease appearance is demonstrated in this inbred family.

Original languageEnglish
Pages (from-to)435-439
Number of pages5
JournalGenetics in Medicine
Volume5
Issue number6
DOIs
StatePublished - Nov 2003

Keywords

  • Founder effect
  • Gene mutation
  • Generalized atrophic benign epidermolysis bullosa
  • Splice site
  • Type XVII collagen

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