Liang Wen-Chen, Chou Po-Ching, Hung Chia-Cheng, Su Yi-Ning, Kan Tsu-Min, Chen Wan-Zi, Hayashi Yukiko K, Nishino Ichizo, Jong Yuh-Jyh
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
J Neurol Sci. 2016 Mar 15;362:304-8. doi: 10.1016/j.jns.2016.02.002. Epub 2016 Feb 2.
Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We identified five patients with a novel homozygous mutation of c.101G>T (p.Arg34Leu) in SGCA from a big aboriginal family ethnically consisting of two tribes in Taiwan. Patient 3 is the maternal uncle of patients 1 and 2. All their parents, heterozygous for c.101G>T, denied consanguineous marriages although they were from the same tribe. The heterozygous parents of patients 4 and 5 were from two different tribes, originally residing in different geographic regions in Taiwan. Haplotype analysis showed that all five patients shared the same mutation-associated haplotype, indicating the probability of a founder effect and consanguinity. The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. It is important to investigate the prevalence of LGMD2D in Taiwan for early diagnosis and treatment.
2D型肢带型肌营养不良症（LGMD2D）是一种常染色体隐性遗传性肢带型肌营养不良症，由SGCA基因突变引起。SGCA编码α-肌聚糖（SG），它与肌膜中的其他SG形成异源四聚体，并构成肌营养不良蛋白-糖蛋白复合物的一部分。LGMD2D在不同种族背景中的发病率各不相同，到目前为止，亚洲仅报道了少数患者。我们从台湾一个由两个部落组成的大型原住民家庭中，鉴定出5名携带SGCA基因新的纯合突变c.101G>T（p.Arg34Leu）的患者。患者3是患者1和患者2的舅舅。他们所有的父母均为c.101G>T杂合子，尽管来自同一部落，但均否认有近亲结婚。患者4和患者5的杂合子父母来自两个不同的部落，原本居住在台湾不同的地理区域。单倍型分析表明，所有5名患者共享相同的与突变相关的单倍型，这表明存在奠基者效应和近亲结婚的可能性。结果表明，SGCA基因中c.101G>T的携带率在台湾可能很高，尤其是在原住民群体中，无论其所属部落如何。调查台湾LGMD2D的患病率对于早期诊断和治疗至关重要。
