deafness and CMT research - BNI Phoenix, Arizona US

[Guest guest]

Research Absbract from Neurology 2003 Feb 11;60(3):506-8

Deafness and CMT disease associated with a novel four amino acid

deletion in the PMP22 gene.

Sambuughin N, De Bantel A, Mc S, Sivakumar K.

Division of Neurology, Neuromuscular Diseases Section, Barrow

Neurological Institute, Phoenix, AZ.

The molecular basis for the clinically distinct entity of deafness with

Charcot-Marie-Tooth disease has not been established with certainty. The

authors report deafness associated with a demyelinating neuropathy in

three individuals of a family in whom a novel four-amino acid deletion

in the PMP22 gene was identified. The data and review of literature

suggest that in the PMP22 gene, some point mutations and small deletions

in the transmembrane domain that are in close proximity to the

extracellular component of the protein result in this clinically

distinct entity.