Novel Compound Heterozygous Mutations in ILNEB Syndrome.

Abstract

Interstitial Lung, Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) is a rare autosomal recessive genetic syndrome caused by mutations in ITGA3. This gene encodes the three subunit of integrin 3β1, which plays an important role in the structure and function of keratinocytes. We analysed compound heterozygous mutations in a patient, observing clinical features that mirrored some but not all previously reported ILNEB cases. These findings suggested that the mutations in this patient shared a common loss-of-function mechanism. This case expands the current understanding of the genotype-phenotype correlations in ILNEB.