Literature DB >> 10545038

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.

H Takashima1, M Nakagawa, M Suehara, M Saito, A Saito, N Kanzato, T Matsuzaki, K Hirata, J D Terwilliger, M Osame.   

Abstract

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) has been reported as a new type of HMSN with the disease gene locus in the 3p14.1-q13 region. To further narrow down the gene locus, we performed fine linkage mapping using the linkage disequilibrium method. Analysis of DNA marker haplotypes and genetic cross-over sites showed the disease gene locus to be in the 3.1 cM interval bracketed by D3S1591 and D3S1281. Linkage disequilibrium analysis with DISMULT using 9 marker loci jointly in this region showed a lod score of 4.93 (P < 0.00000095). Consequently, the HMSN-P gene almost certainly lies on chromosome 3q13.1 and shows evidence of linkage disequilibrium.

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Year:  1999        PMID： 10545038     DOI： 10.1016/s0960-8966(99)00021-8

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  8 in total

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3.  Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

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4.  Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.

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5.  Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

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6.  Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

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8.  A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

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  8 in total

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