title: Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
abstract: 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.
authors.affiliation: 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.
authors.forename: Wen-Chen
authors.initials: WC
authors.lastname: Liang
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Po-Ching
authors.initials: PC
authors.lastname: Chou
authors.affiliation: Sofiva Genomics Co., Ltd., Taipei, Taiwan.
authors.forename: Chia-Cheng
authors.initials: CC
authors.lastname: Hung
authors.affiliation: Sofiva Genomics Co., Ltd., Taipei, Taiwan; Dianthus Maternal Fetal Medicine Clinic, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Tsu-Min
authors.initials: TM
authors.lastname: Kan
authors.affiliation: Department of Pathology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Wan-Zi
authors.initials: WZ
authors.lastname: Chen
authors.affiliation: Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Biological Science and Technology, Institute of Molecular Medicine and Bioengineering, College of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan. Electronic address: yjjong@gap.kmu.edu.tw.
authors.forename: Yuh-Jyh
authors.initials: YJ
authors.lastname: Jong
mesh_terms: D000293:Adolescent; D002154:Calpain / Q000378:metabolism; D051244:Caveolin 3 / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D058088:Sarcoglycanopathies / Q000453:epidemiology* / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology / Q000208:ethnology; D055815:Young Adult
chemical_list: D051244:Caveolin 3; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; C526571:SGCA protein, human; D049031:Sarcoglycans; C105884:CAPN3 protein, human; D002154:Calpain
keywords: Founder mutation; Limb-girdle muscular dystrophy type 2D; Sarcoglycan; Sarcoglycanopathy; Taiwan; The SGCA gene