编码神经节苷脂诱导分化相关蛋白1的基因在轴索性遗传性运动感觉神经病4A型中发生突变。
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
作者信息
Cuesta Ana, Pedrola Laia, Sevilla Teresa, García-Planells Javier, Chumillas María José, Mayordomo Fernando, LeGuern Eric, Marín Ignacio, Vílchez Juan J, Palau Francesc
机构信息
Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas (CSIC), 46010 Valencia, Spain.
出版信息
Nat Genet. 2002 Jan;30(1):22-5. doi: 10.1038/ng798. Epub 2001 Dec 17.
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
我们在三个患有轴索性夏科-马里-图思（CMT）神经病和声带麻痹的家族中，于GDAP1基因中鉴定出三种不同的突变和六个突变等位基因，这些家族之前与8号染色体q21.1区域的CMT4A基因座相关联。这些结果确定了CMT4A（MIM 214400）的分子病因，并表明它可能与轴索性和脱髓鞘性表型均有关联。
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