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: Cornelius F Boerkoel, Hiroshi Takashima, Masanori Nakagawa, Shuji Izumo, Dawna Armstrong, Ian Butler, Pedro Mancias, Sozos C H Papasozomenos, Lawrence Z Stern, James R Lupski
• Journal: Annals of neurology (Ann Neurol) Vol. 53 Issue 3 Pg. 400-5 (Mar 2003) ISSN: 0364-5134 [Print] United States
• PMID: 12601710 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• GDAP protein
• Nerve Tissue Proteins

Topics

• Adolescent
• Adult
• Charcot-Marie-Tooth Disease (genetics, pathology, physiopathology)
• Child
• Female
• Founder Effect
• Hispanic or Latino (genetics)
• Humans
• Male
• Middle Aged
• Mutation (genetics)
• Nerve Tissue Proteins (genetics)
• Pedigree
• Sural Nerve (pathology, physiopathology)