Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

ConclusionOverall, we show the p.Met34Lys variant is a novel dominant acting variant causing PPK with deafness. The presence of a loss a function variant on the other allele creates a more severe clinical phenotype, with some features reminiscent of KID syndrome.

Source: Molecular Genetics & Genomic Medicine - January 14, 2021 Category: Genetics & Stem Cells Authors: Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan Tags: CLINICAL REPORT Source Type: research