Exclusion of the SCN2B gene as candidate for CMT4B

被引：3

作者：

Bolino, A

Seri, M

Caroli, F

Eubanks, J

Srinivasan, J

Mandich, P

Schenone, A

Quattrone, A

Romeo, G

Catterall, WA

Devoto, M

机构：

[1] Univ Genoa, Fac Med, Genet Mol Lab, Ist Giannina Gaslini, I-16148 Genoa, Italy

[2] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA

[3] Univ Genoa, Fac Med, IBIG, I-16126 Genoa, Italy

[4] Univ Genoa, Dipartimento Sci Neurol & Riabilitaz, I-16126 Genoa, Italy

[5] Univ Reggio Calabria, Fac Med, Ist Neurol, Catanzaro, Italy

[6] CNR, Ist Med Sperimentale & Biotecnol, Cosenza, Italy

[7] Int Agcy Res Canc, F-69372 Lyon, France

[8] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 06期

关键词：

peripheral neuropathy; sodium channel; genomic structure; physical mapping;

D O I：

10.1038/sj.ejhg.5200220

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating autosomal recessive motor and sensory neuropathy characterised by focally folded myelin sheaths in the peripheral nerve. The CMT4B gene has been localised by homozygosity mapping and haplotype sharing in the 11q23 region. A cDNA encoding for the beta 2 subunit of the human brain sodium channel, SCN2B, has been recently assigned to the same chromosomal interval by FISH. The SCN2B gene has been considered a good candidate for CMT4B on the basis of protein homology, chromosomal localisation, and putative biological function of the coded product. In this paper, we report the genomic structure of the SCN2B gene consisting of 4 exons and 3 introns spanning a region of approximately 12 Kb. In addition, a search for mutations in patients affected with CMT4B as well as a refined physical localisation excludes SCN2B as the CMT4B gene.

引用

页码：629 / 634

页数：6

共 13 条

[1] Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing [J].