Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G
Laboratoire de Biochimie, Hôpital de l'Antiquaille, Lyon, France.
Hum Mutat. 1995;6(1):50-4. doi: 10.1002/humu.1380060110.
Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT 1a, and in the peripheral myelin protein zero (PO) located on chromosome 1q21-q23 (CMT 1b). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin.
1型夏科-马里-图斯病（CMT1）是一种常染色体显性外周神经病变。大多数CMT1病例是由于17号染色体短臂11.2区（CMT1a）上一个1.5兆碱基DNA片段的重复所致。在位于CMT1a重复区域的外周髓鞘蛋白22（PMP22）基因以及位于1号染色体长臂21-23区（CMT1b）的外周髓鞘蛋白零（PO）基因中发现了微小突变。我们在两个患有CMT病的法国家庭中鉴定出了PO基因中的两个新突变。这两个突变均发生在PO蛋白的细胞外结构域。其中一个突变是新发突变，源自父亲。
