Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

ABSTRACT: Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI. Cytosolic sulfotransferases form a large family of enzymes that are involved in the synthesis and metabolism of several steroids in humans. We identified four distinct mutations including missense, nonsense, and spl

SUBMITTER: Heinz L 

PROVIDER: S-EPMC5473727 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature