264 mutations in Type 1X GJB1 gene and rising

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Abstract from J Appl Genet. 2004;45(1):95-100.

Molecular genetic analysis of the GJB1 gene: a study of six mutations.

KOCHANSKI A, KABZINSKA D.

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences,

Warszawa, Poland

Charcot-Marie-Tooth type X1 disease (CMTX1) is an X-dominant peripheral

neuropathy caused by mutations in the GJB1 gene. Molecular genetic

analysis of the GJB1 gene is crucial for CMTX1 diagnosis and for genetic

counselling. To date, molecular genetic analysis of the GJB1 gene

revealed 264 mutations in the GJB1 gene. In spite of the rising number

of GJB1 gene mutations, family history was documented in only a few

CMTX1 cases.

The aim of this study was a molecular genetic analysis of the GJB1 gene

in 7 families, performed in 19 CMTX1-affected patients and 13 healthy

family members. Moreover, we attempted to report evidence of effects of

6 amino-acid substitutions described in this study. To the best of our

knowledge, the G110D, V152D and K167E mutations are novel substitutions,

which have not been reported so far.