婴儿期发病的腓骨肌萎缩症家系PMP22基因突变研究

PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family

摘要:

目的：研究一个婴儿期发病的腓骨肌萎缩症（CMT）家系PMP22基因突变，探讨该家系CMT的遗传学特点。方法：应用STR结合多重PCR法对2例CMT患儿及该家系内15名表型正常的成员进行PMP22基因重复突变的分析。同时选择20名健康人做为对照。结果：在2名CMT患儿及5名家系内表型正常的成员中发现了PMP22基因重复突变，其中5例突变在STR位点D17S921，2例突变在STR位点D17S4A，而家系内其余10名成员及20名健康人未发现突变。结论：该CMT家系的致病基因为17p11.2-p12区域内包含PMP22基因的重复突变，其亚型为CMT1A。

Abstract:

OBJECTIVE: To study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease (CMT) and the genetic features of the disease. METHODS: Two patients with CMT, fifteen unaffected members in the family and 20 healthy controls were enrolled. STR-PCR and gene scanning were used to detect PMP22 duplication mutation. RESULTS: The mutations of PMP22 were found in the two patients and other five unaffected members in the family. The mutations were located in the STR locus D17S921 in 5 cases and in the STR locus D17S4A in 2 cases. The other members in the family and 20 healthy controls did not show the mutations of PMP22. CONCLUSIONS: The gene causing CMT in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A.