Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

ABSTRACT:

Background

X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions.

Methods

We describe two novel mutations in the connexin32 gene in two Norwegian families.

Results

Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probably results in a shorter non-functional protein structure. Affected individuals had an early age at onset usually in the first decade. The symptoms were more severe in men than women. All had severe muscle weakness in the legs. Several abortions were observed in this family. Family 2 had a c.536 G>A (C179Y) transition which causes a change of the highly conserved cysteine residue, i.

SUBMITTER: Braathen GJ 

PROVIDER: S-EPMC1999495 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature