Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.^1-6 Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.⁷ However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7.

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