Jebseq: A Novel Database To Explore Genotype-Phenotype Correlation In Junctional Epidermolysis Bullosa

associated myasthenia. In one case MD was congenital, but otherwise the earliest onset was 8 years. Two (one aged 8 years and one aged 14 years) had early features of fatiguability or ptosis (before the age of 5 years). In the EBS-MD group skin involvement at birth was minimal in three, extensive in three and one patient experienced oral blisters. Five patients were alive with no MD (aged 11 months–26 years) and all had very mild skin fragility, including at birth and no other anomalies, although two experienced mucosal blistering. Mutations in exon 31 occurred in five of seven families with MD, in one of three families with PA and in two of three families with neither. Other mutations were in exons 13, 30 and 32, and intron 12. Our findings suggest that babies with extensive skin involvement at birth, associated ear, genital and nail abnormalities, and biallelic PLEC mutations have a poor outcome, even after surgical correction of PA. Babies with mild skin involvement at birth may develop MD, usually in the second decade; there are no clear predictors of MD, but fatiguability and ptosis appear to be early manifestations. We found no clear genotype–phenotype correlation.