Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family

Abstract

Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of cornification disorders (prevalence 1:200,000) broadly divided into three classes namely Harlequin Ichthyosis (HI; OMIM#242500), Lamellar Ichthyosis (LI; OMIM#242304) and Congenital Ichthyosiform Erythroderma (CIE; OMIM#242100). ARCI clinical features include generalized scaling, hypohidrosis and palmo-plantar hyperlinearity although presentation and severity may vary significantly. A large number of affected individuals present with collodion membrane at birth. HI is the most severe and fatal form of the disease and the neonates are born covered with thick, hard, armor-like plates of cornified skin. The classic form of LI present with dark brown, plate-like scales with no erythroderma and CIE with fine and white scales adjoining generalized erythema. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia and palmoplantar keratoderma. Currently, ten genes are reported in association with different ARCI phenotypes: TGM1, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1 and SDR9C7^1,2,3. Here we report a novel frameshift mutation in SDR9C7 (short-chain dehydrogenase/reductase family 9C member 7) underlying ARCI in a consanguineous Pakistani family.

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