DiCapua Daniel, Patwa Huned
Neuromuscular Division, Yale University School of Medicine, New Haven, CT.
J Clin Neuromuscul Dis. 2014 Mar;15(3):105-7. doi: 10.1097/CND.0000000000000018.
We describe 2 siblings who are homozygous for the G787A mutation in the γ-sarcoglycan gene (SGCG), who presented with a severe childhood onset limb-girdle muscular dystrophy, and share a similar clinical phenotype and disease course consistent with LGMD 2C. The siblings' mother is asymptomatic and is heterozygous for the same mutation. The father is estranged but presumably was also an asymptomatic heterozygous carrier as the father's sister (siblings' aunt) died of complications related to a muscular dystrophy at the age of 14. The paternal grandparents of these siblings were first cousins. All members of the family are of Puerto Rican ancestry supporting the theory that this is a founder mutation, as has been previously suggested by Duncan et al The clinical presentation, workup, and course of our patients are described in detail. These 2 cases effectively double the reported cases of this founder mutation.
我们描述了2名同胞，他们在γ-肌聚糖基因（SGCG）中为G787A突变的纯合子，表现为严重的儿童期起病的肢带型肌营养不良，具有与LGMD 2C一致的相似临床表型和病程。这两名同胞的母亲无症状，为同一突变的杂合子。父亲已疏远，但据推测也是无症状的杂合子携带者，因为父亲的妹妹（同胞的姑姑）14岁时死于与肌营养不良相关的并发症。这些同胞的祖父母是近亲。该家族所有成员均为波多黎各血统，支持这是一种奠基者突变的理论，正如邓肯等人之前所提出的。详细描述了我们患者的临床表现、检查和病程。这2例病例使该奠基者突变的报告病例数有效翻倍。
