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CMT4A: Identification of a Hispanic GDAP1 founder mutation
Author(s) -
Boerkoel Cornelius F.,
Takashima Hiroshi,
Nakagawa Masanori,
Izumo Shuji,
Armstrong Dawna,
Butler Ian,
Mancias Pedro,
Papasozomenos Sozos C. H.,
Stern Lawrence Z.,
Lupski James R.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10505
Subject(s) - founder effect , haplotype , neuropathology , mutation , myelin , biology , genetics , peripheral myelin protein 22 , pathology , gene , phenotype , anatomy , disease , medicine , neuroscience , allele , central nervous system
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. Ann Neurol 2003;53:400–405