Basan syndrome in a family from South India: a novel SMARCAD1 variant

Abstract

Basan syndrome is a rare ectodermal dysplasia characterized by a triad of adermatoglyphia, reticulate pigmentation and nail dystrophy, in addition to transient neonatal findings of acral blistering and facial milia. The genetic basis was recently established to be heterozygous mutations affecting the skin-specific isoform of SMARCAD1. It is now considered part of the spectrum of disorders resulting from haploinsufficiency of this isoform, which includes both Huriez syndrome and autosomal dominant adermatoglyphia. Here, we describe a family with Basan syndrome from South India with a novel SMARCAD1 variant (c.378+1delGTAA) affecting the known mutational hotspot in exon 1.