Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
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DOI：
10.1016/j.nmd.2006.05.005
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发表时间：
2006-07-01
影响因子：
2.8
通讯作者：
Kalaydjieva, Luba
中科院分区：
文献类型：
--
作者：
Colomer, Jaume;Gooding, Rebecca;Kalaydjieva, Luba
我们研究了一组遗传上同质的患者中CMT4C疾病的表现，这些患者是最近在SH3TC2中发现的吉普赛创始人突变p.Arg1109X的纯合子。我们观察到发病年龄、进展速度、运动和感觉受累的程度和严重程度、脊柱侧凸和颅神经受累的变化程度令人惊讶，这表明CMT4C疾病的表型谱比经典诊断标准宽得多。表型相似性的一级亲属和增加异质性，在更远的相关科目点参与遗传修饰，可能是在编码蛋白质的合作伙伴与SH3TC2相互作用的基因的变体。(C)2006 Elsevier B.V.保留所有权利。
We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2. (C) 2006 Elsevier B.V. All rights reserved.