与外周髓鞘蛋白22（PMP22）基因突变相关的Dejerine-Sottas综合征。

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

作者信息

Roa B B, Dyck P J, Marks H G, Chance P F, Lupski J R

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Nat Genet. 1993 Nov;5(3):269-73. doi: 10.1038/ng1193-269.

DOI:10.1038/ng1193-269

PMID:8275092

Abstract

Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.

摘要

德热里纳 - 索塔斯综合征是一种肥大性脱髓鞘性神经病，在大多数家系中似乎呈常染色体隐性遗传。其临床症状与1型遗传性运动感觉神经病（CMT1）相似，但更为严重，CMT1的主要亚型CMT1A是由17号染色体p11.2 - p12区域中一个包含髓磷脂基因PMP22的1.5兆碱基DNA区域重复，或由PMP22点突变引起。对两名无亲缘关系的德热里纳 - 索塔斯患者的PMP22编码区进行突变分析，发现了杂合状态下存在的个别错义点突变。这些发现表明，德热里纳 - 索塔斯综合征可能由PMP22的显性点突变等位基因引起。