標題: Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan
作者: 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
生物科技學系
生醫工程研究所
Department of Biological Science and Technology
Institute of Biomedical Engineering
關鍵字: Limb-girdle muscular dystrophy type 2D;Sarcoglycan;Sarcoglycanopathy;The SGCA gene;Founder mutation;Taiwan
公開日期: 15-Mar-2016
摘要: 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 (C) 2016 Elsevier B.V. All rights reserved.
URI: http://dx.doi.org/10.1016/j.jns.2016.02.002
http://hdl.handle.net/11536/133476
ISSN: 0022-510X
DOI: 10.1016/j.jns.2016.02.002
期刊: JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume: 362
起始頁: 304
結束頁: 308
Appears in Collections:Articles