Peddareddygari Leema Reddy, Surgan Victoria, Grewal Raji P
New Jersey Neuroscience Institute, Edison, NJ 08820, USA.
J Clin Neuromuscul Dis. 2010 Dec;12(2):62-5. doi: 10.1097/CND.0b013e3181f3dbd3.
Limb-girdle muscular dystrophy represents a clinically and genetically heterogeneous group of myopathies. Limb-girdle muscular dystrophy Type 2A, which is transmitted in an autosomal-recessive pattern, is caused by mutations in the calpain-3 (CAPN3) gene. A number of mutations have been reported in patients from throughout the world but not in the Asian-Indian population. We describe a genotype/phenotype analysis of an Asian-Indian patient with a history, neurologic examination, and investigations consistent with muscular dystrophy. Genetic analysis of this patient showed a homozygous G2338C transversion resulting in an amino acid change from aspartic acid 780 histidine in the CAPN3 gene confirming Limb-girdle muscular dystrophy Type 2A. Subsequent testing of the patient's family revealed that his parents and sister were heterozygous unaffected carriers. The G2338C transversion was detected as a compound heterozygous mutation in one patient in Germany. We report a homozygous case and expand the clinical spectrum of limb-girdle muscular dystrophy Type 2A to include Asian-Indians.
肢带型肌营养不良症是一组临床和遗传异质性的肌病。常染色体隐性遗传的2A型肢带型肌营养不良症是由钙蛋白酶3（CAPN3）基因突变引起的。世界各地的患者中已报告了许多突变，但亚洲印度人群中尚未有此类报告。我们描述了一位有肌营养不良症病史、经神经学检查及相关调查证实的亚洲印度患者的基因型/表型分析。对该患者的基因分析显示，CAPN3基因发生纯合G2338C颠换，导致第780位氨基酸由天冬氨酸变为组氨酸，确诊为2A型肢带型肌营养不良症。随后对患者家族的检测显示，其父母和妹妹为杂合未受影响携带者。在德国的一名患者中检测到G2338C颠换为复合杂合突变。我们报告了一例纯合病例，并将2A型肢带型肌营养不良症的临床谱扩大至亚洲印度人。
