Novel Compound Heterozygous Mutations in ILNEB Syndrome.

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.