A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome

Abstract

Netherton syndrome (NS) is a multi-domain genodermatoses with hair, skin, and immunological abnormalities caused by a monogenic serine protease inhibitor of Kazal type 5 mutation. As it presents with a myriad of overlapping clinical features, it often creates a diagnostic confusion from other congenital erythroderma causes. The molecular basis of NS was investigated in a 7-month-old male child using next-generation sequencing. Sequencing identified an A-to-G transition at producing the missense mutation p.Met238Val in exon 5 of the CARD14 gene. This study suggests the occurrence of the CARD14 gene as a novel missense mutation in NS and suggests that it may be a recurrent abnormality and the probable reason for the atypical features of this genodermatosis presenting as congenital erythroderma.

Keywords

• congenital erythoderma
• netherton
• card14