TY - JOUR
T1 - Exclusion of the SCN28 gene as candidate for CMT4B
AU - Bolino, Alessandra
AU - Seri, Marco
AU - Caroli, Francesco
AU - Eubanks, James
AU - Srinivasan, Jayashree
AU - Mandich, Paola
AU - Schenone, Angelo
AU - Quattrone, Aldo
AU - Romeo, Giovanni
AU - Catterall, William A.
AU - Devoto, Marcella
PY - 1998/11
Y1 - 1998/11
N2 - 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 β2 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.
AB - 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 β2 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.
KW - Genomic structure
KW - Peripheral neuropathy
KW - Physical mapping
KW - Sodium channel
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M3 - Article
C2 - 9887383
AN - SCOPUS:0032217188
SN - 1018-4813
VL - 6
SP - 629
EP - 634
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -