NDLI: Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa

Content Provider	JAMA Network
Author	Turcan, Iana Pasmooij, Anna M. G. Akker, Peter C. van den Lemmink, Henny Halmos, Gyorgy B. Sinke, Richard J. Jonkman, Marcel F.
Copyright Year	2016
Abstract	Importance: Epidermolysis bullosa ( EB) is a group of mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Mutations in the: ITGA6and: ITGB4genes, encoding the hemidesmosomal protein α6β4-integrin, have been involved in the pathogenesis of EB. To date, the inheritance of these particular genes is known to be exclusively autosomal recessive. Herein, we report a novel heterozygous missense mutation in the: ITGB4gene exerting a dominant negative effect that cosegregates with the EB phenotype in an extended family. Observations: The clinical phenotype of affected individuals is primarily characterized by nail dystrophy and late onset of mild skin fragility and acral blistering. Some patients developed granulation tissue in the larynx, urethra, lacrimal duct, and external auditory canal. Sequencing the complete set of genes associated with EB revealed a heterozygous missense mutation in exon 5 of: ITGB4: c.433G> T, p. Asp145Tyr. The mutation was found in the affected relatives and was not present in unaffected relatives and control DNA samples. Conclusions and Relevance: This study highlights, for the first time to our knowledge, the possibility of a dominant mode of inheritance for a missense: ITGB4mutation in EB, thus expanding the mutational database and genotype-phenotype correlation for this rare disease.
Ending Page	562
Starting Page	558
Page Count	5
File Format	PDF HTM / HTML
ISSN	21686068
DOI	10.1001/jamadermatol.2015.5236
Issue Number	5
Journal	JAMA Dermatology
Volume Number	152
Language	English
Publisher	American Medical Association
Publisher Date	2016-05-01
Access Restriction	Open
Subject Keyword	epidermolysis bullosa genes heterozygote missense mutation genetic skin diseases mutation autosomal dominant inheritance inherited epidermolysis bullosa pachyonychia congenita integrin alpha6 integrins dystrophia unguium genetic inheritance blister blistering eruption dna
Content Type	Text
Resource Type	Report
Subject	Dermatology

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