A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

Abstract

Hypomyelination and congenital cataract is a recently reported autosomal recessive white matter disorder characterized by hypomyelination of the central and peripheral nervous systems, progressive neurological impairment and congenital cataract and caused by mutations in gene DRCTNNB1A. Here we report a large intragenic deletion that does not lead to congenital cataract in all of the patients in an afflicted family. The clinical phenotypes described for five patients broaden the phenotype of the disease and indicate that congenital cataract is not an essential criterion for differential diagnosis.