title: CMT4A: identification of a Hispanic GDAP1 founder mutation.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Shuji
authors.initials: S
authors.lastname: Izumo
authors.forename: Dawna
authors.initials: D
authors.lastname: Armstrong
authors.forename: Ian
authors.initials: I
authors.lastname: Butler
authors.forename: Pedro
authors.initials: P
authors.lastname: Mancias
authors.forename: Sozos C H
authors.initials: SC
authors.lastname: Papasozomenos
authors.forename: Lawrence Z
authors.initials: LZ
authors.lastname: Stern
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D005260:Female; D018703:Founder Effect; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins