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Literature DB >> 15955956

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

H-J Kim¹, S H Hong, C-S Ki, B-J Kim, J-S Shim, S-H Cho, J-H Park, J-W Kim.

Abstract

The authors describe a Korean family with X-linked recessive Charcot-Marie-Tooth disease (CMT) having deafness and optic neuropathy. An X chromosome-wide linkage analysis identified a 15.2-cM candidate region flanked by DXS990 and DXS8067 on Xq21.32-q24 with the maximum lod score at DXS8077 (3.62, theta = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.

Entities: Disease Gene Mutation

Mesh：

Year: 2005 PMID： 15955956 DOI： 10.1212/01.WNL.0000163768.58168.3A

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

Keyword Cloud
Cited

7 in total

1. X-linked CMT: genes and gene loci in an Australian cohort.

Authors: Megan Hwa Brewer; Rabia Chaudhry; Keta McDowall; Shannon Chu; Bartosz Kowalski; Patsie Polly; Garth Nicholson; Marina Kennerson
Journal: Neurogenetics Date: 2010-03-05 Impact factor: 2.660

Review 2. PRPS1 mutations: four distinct syndromes and potential treatment.

Authors: Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal: Am J Hum Genet Date: 2010-04-09 Impact factor: 11.025

3. [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

Authors: D Bönsch; C M Schmidt; P Scheer; J Bohlender; C Neumann; A am Zehnhoff-Dinnesen; T Deufel
Journal: HNO Date: 2008-02 Impact factor: 1.284

4. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Authors: Hee-Jin Kim; Kwang-Min Sohn; Michael E Shy; Karen M Krajewski; Miok Hwang; June-Hee Park; Sue-Yon Jang; Hong-Hee Won; Byung-Ok Choi; Sung Hwa Hong; Byoung-Joon Kim; Yeon-Lim Suh; Chang-Seok Ki; Soo-Youn Lee; Sun-Hee Kim; Jong-Won Kim
Journal: Am J Hum Genet Date: 2007-06-29 Impact factor: 11.025

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

1. X-linked CMT: genes and gene loci in an Australian cohort.

Review 2. PRPS1 mutations: four distinct syndromes and potential treatment.

3. [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

4. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

5. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

6. Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Review 7. Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.