Iana Turcan and colleagues present a study of Epidermolysis bullosa (EB) phenotype in an extended family from which the complete set of genes associated with EB has been sequenced. They have found a heterozygous missense mutation in exon 5 of ITGB4: c.433G>T, p.Asp145Tyr in only affected relatives suggesting the possibility of a dominant mode of inheritance for a missense ITGB4 mutation in EB.
Turcan I et al. JAMA Dermatology.
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JOHN GARCIA, Invitae
San Francisco, USA