Abstract
Basan syndrome is a rare ectodermal dysplasia, characterised by adermatoglyphia, mottled acral pigmentation and various nail abnormalities; in addition to transient neonatal findings of acral blistering and facial milia. The genetic basis was established recently as heterozygous mutations affecting the skin specific isoform of the SMARCAD1 gene. It is now considered to be part of the spectrum of disorders resulting from haploinsufficiency of this isoform, which also includes Huriez syndrome and autosomal dominant adermatoglyphia. Here, we describe a family with Basan syndrome from South-India with a novel SMARCAD1 variant [SMARCAD1: c.-10 + 4_-10 + 7del] affecting the known mutational hotspot in non-coding exon 1.
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