A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.

Keywords: CSB gene; Cockayne syndrome; mutation.