期刊
CLINICAL GENETICS
卷 93, 期 6, 页码 1159-1171出版社
WILEY
DOI: 10.1111/cge.13230
关键词
Bethlem myopathy; COL6A1; COL6A2; COL6A3; collagen VI; mosaicism; Ullrich congenital muscular dystrophy
资金
- National Key Research and Development Program of China [2016YFC0901505]
- National Natural Science Foundation of China [81571220]
- Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases [Z141107004414036]
- Beijing Municipal Science and Technology Commission [Z151100003915126]
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [ZIANS003129] Funding Source: NIH RePORTER
Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with 40 UCMD and 20 BM. Muscle with biopsies revealed dystrophic changes and showed completely deficiency of collagen VI or sarcolemma specific collagen VI deficiency. We identified 62 different pathogenic variants in these 60 patients, with 34 were first reported while 28 were previously known; 72 allelic pathogenic variants in COL6A1 (25/72, 34.7%), COL6A2 (33/72, 45.8%) and COL6A3 (14/72, 19.4%). We also found somatic mosaic variant in the parent of 1 proband by personal genome machine amplicon deep sequencing for mosaicism. Here we provide clinical, histological and genetic evidence of collagen VI-related myopathy in 60 Chinese patients. NGS is a valuable approach for diagnosis and accurate diagnosis provides useful information for genetic counseling of related families.
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