面肩肱型肌营养不良
遗传学
生物
亚端粒
肌营养不良
错义突变
人口
桑格测序
突变
基因
医学
端粒
环境卫生
作者
Kohei Hamanaka,Kanako Goto,Mami Arai,Koji Nagao,Chikashi Obuse,S. Noguchi,Yukiko Hayashi,Satomi Mitsuhashi,Ichizo Nishino
标识
DOI:10.1016/j.nmd.2016.03.001
摘要
Facioscapulohumeral muscular dystrophy 2 (FSHD2) is a genetic muscular disorder characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array, D4Z4. FSHD2 is caused by heterozygous mutations in the gene encoding structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1). Because there has been no study on FSHD2 in Asian populations, it is not known whether this disease mechanism is widely seen. To identify FSHD2 patients with SMCHD1 mutations in the Japanese population, bisulfite pyrosequencing was used to measure DNA methylation on the D4Z4 repeat array, and in patients with DNA hypomethylation, the SMCHD1 gene was sequenced by the Sanger method. Twenty patients with D4Z4 hypomethylation were identified. Of these, 13 patients from 11 unrelated families had ten novel and one reported SMCHD1 mutations: four splice-site, two nonsense, two in-frame deletion, two out-of-frame deletion, and one missense mutations. One of the splice-site mutations was homozygous in the single patient identified with this. In summary, we identified novel SMCHD1 mutations in a Japanese cohort of FSHD2 patients, confirming the presence of this disease in a wider population than previously known.
科研通智能强力驱动
Strongly Powered by AbleSci AI