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A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Abstract：

: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 D19S902 and D19S907 in a 5.5-cM range. A maximum two-point LOD score of 9.08 was obtained for marker D19S867, 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).

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

doi

10.1086/316934

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

269-74

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62496-3

journal_volume

68

pub_type

杂志文章

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