Type 2D CMT mutations and DSMA Type V research

[Guest guest]

Abstract from the American Journal of Human Genetics 2003 Apr 10;72(5)

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D

and Distal Spinal Muscular Atrophy Type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ,

Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K,

Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED.

Genome Technology Branch, National Human Genome Research Institute,

Bethesda, MD; and Graduate Genetics Program, The Washington

University, Washington, DC, USA.

Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular

atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in

an autosomal dominant fashion. Our previous genetic and physical mapping

efforts localized the responsible gene(s) to a well-defined region on

human chromosome 7p. Here, we report the identification of four

disease-associated missense mutations in the glycyl tRNA synthetase gene

in families with CMT2D and dSMA-V. This is the first example of an

aminoacyl tRNA synthetase being implicated in a human genetic disease,

which makes genes that encode these enzymes relevant candidates for

other inherited neuropathies

and motor neuron diseases.