Type 4A Mutation in Hispanic families research

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Abstract from Ann Neurol 2003 Mar;53(3):400-5

CMT4A: Identification of a Hispanic GDAP1 founder mutation.

Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, I,

Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. Department of

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Mutations of the ganglioside-induced differentiation-associated protein

1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease

type 4A. We report four additional families with recessive mutations

(487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three

unrelated Hispanic families that had the same haplotype suggesting a

Spanish founder mutation. Both the Q163X and the R120Q mutation cause

demyelination and axonal loss. The patients had symptoms within the

first two years of life and involvement of cranial, sensory, and enteric

nerves. Neuropathology showed

loss of large myelinated fibers, onion bulb formations and focal folding

of the outer myelin lamina.