Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: A challenge for genotype-phenotype correlation

Dorfman-Chanarin syndrome is a rare neutral lipid disorder characterised by icthyosis, hepatic steatosis and multisystemic involvement of varying magnitude. It is an autosomal recessive disease caused by mutations in the ABHD5 gene. We report a consanguineous family of Afgani origin, with four affected siblings who were found to have a novel homozygous nonsense mutation g. [27606 G > T]; [27606 G > T]. The clinical findings were unusual in the form of early cirrhosis and hepatic decompensation in one sibling, presence of corneal opacities in male siblings and tessellated fundus in all affected children. Steatosis was minimal in liver biopsy specimens and all children had low vitamin D levels. Genotype-phenotype correlations have not been possible in Dorfman-Chanarin syndrome and the present report raises further challenges for the same.

► Novel ABHD5 nonsense mutation beyond previously reported functional domains. ► Early cirrhosis in Dorfman-Chanarin Syndrome. ► Tesselated fundus and corneal opacity in Dorfman-Chanarin Syndrome. ► Low Vitamin D levels in Dorfman-Chanarin syndrome.