Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A
Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris, France.
Clin Genet. 1995 Dec;48(6):281-3. doi: 10.1111/j.1399-0004.1995.tb04109.x.
We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in exon 2, which resulted in substitution of a phenylalanine for serine at amino acid position 63 of PO. This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved.
我们报告了对两名患有1型遗传性运动感觉神经病（CMT1）表型的患者（一位母亲和她的女儿）的研究：神经传导速度低至13 - 15米/秒，且在开始走路的年龄就发病。对主要外周髓鞘蛋白PO编码基因的DNA分析显示，外显子2有一个新的点突变，该突变导致PO蛋白第63位氨基酸处的丝氨酸被苯丙氨酸取代。这是该密码子处报告的第三个突变，之前描述的两个突变分别导致CMT1B（丝氨酸63缺失）或德热里纳 - 索塔斯病（丝氨酸63被半胱氨酸取代），这表明单个氨基酸的改变可能会导致不同的表型，具体取决于所涉及的变化类型。
