A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
artículo científico

Date
2001Author
Leal Esquivel, Alejandro
Morera Brenes, Bernal
del Valle Carazo, Gerardo
Heuss, Dieter
Kayser, Corinna
Berghoff, Martin
Villegas Palma, Ramón
Hernández, Erick
Méndez, María
Hennies, Hans Christian
Bernhard, Neundörfer
Barrantes Mesén, Ramiro
Reis, André
Rautenstrauss, Bernd
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Show full item recordAbstract
Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results of a genomewide search in an inbred Costa Rican family (CR-1) affected with autosomal recessive CMT2. By analyzing three branches of the family we detected linkage to the 19q13.3 region, and subsequent homozygosity mapping defined shared haplotypes between markers D195902 and D19S907 in a 5.5-cM range. A maximum two-point LOD score of 9.08 was obtained for marker 019S867, at a recombination fraction of .00, which strongly supports linkage to this locus. The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT. The age at onset of chronic symmetric sensory-motor polyneuropathy was 28-42 years (mean 33.8 years); the electrophysiological data clearly reflect an axonal degenerative process. The phenotype and locus are different from those of demyelinating CMT4F, recently mapped to 19q13.1-13.3; hence, the disease affecting the Costa Rican family constitutes an axonal, autosomal recessive CMT subtype (ARCMT2B).
External link to the item
doi:10.1086/316934
http://www.sciencedirect.com/science/article/pii/S0002929707624963
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234926/pdf/AJHGv68p269.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234926/pdf/AJHGv68p269.pdf
Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2001. Este documento es privado debido a limitaciones de derechos de autor.