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Whole‐exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family

DEAR EDITOR, Autosomal recessive congenital ichthyosis (ARCI) is a group of cornification disorders (prevalence 1 : 200 000) broadly divided into three classes: harlequin ichthyosis (HI; OMIM 242500), lamellar ichthyosis (LI; OMIM 242304) and congenital ichthyosiform erythroderma (CIE; OMIM 242100). Clinical features of ARCI include generalized scaling, hypohidrosis and palmoplantar 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 form of the disease. It is fatal; neonates are born covered with thick, hard, armour-like plates of cornified skin. The classic form of LI presents 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, 10 genes are reported in association with different ARCI phenotypes: transglutaminase 1 (TGM1), ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1 and short chain dehydrogenase/reductase family 9C member 7 (SDR9C7). Here we report a novel frameshift mutation in SDR9C7 underlying ARCI in a consanguineous Pakistani family. The family affected with ARCI (Fig. 1a) was ascertained from Rawalpindi District, Pakistan. Approval from Quaidi-Azam University Institutional Review Board and written informed consent were obtained, followed by blood collection and DNA extraction. Detailed examination of the phenotypic features of patients (IV-1, IV-3 and IV-4) was performed at the Pakistan Institute of Medical Sciences, Islamabad. The patients were born encased in collodion membranes, which later transformed into generalized nonerythematous scales. They presented with fine white scales