Abstract:
: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.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Fan Y,Liu A,Wei C,Yang H,Chang X,Wang S,Yuan Y,Bonnemann C,Wu Q,Wu X,Xiong Hdoi
10.1111/cge.13230subject
Has Abstractpub_date
2018-06-01 00:00:00pages
1159-1171issue
6eissn
0009-9163issn
1399-0004journal_volume
93pub_type
杂志文章abstract::We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.2008.01104.x
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2019-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00692.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1979-03-01 00:00:00
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03555.x
更新日期:1990-08-01 00:00:00
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pub_type: 临床试验,杂志文章
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更新日期:2002-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.00974.x
更新日期:2008-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb04119.x
更新日期:1995-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01819.x
更新日期:1981-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb03274.x
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