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Conference Paper: Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Title | Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations |
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Authors | |
Issue Date | 2019 |
Publisher | International Child Neurology Association (ICNA). |
Citation | The 15th International Child Neurology Congress (ICNC2018): Protecting the developing brain, Mumbai, India, 15-18 November 2018 How to Cite? |
Abstract | Background and Purpose: Mutations in collagen VI-related genes (COL6A1, COL6A2, andCOL6A3) cause Ullrich congenital muscular dystrophy (UCMD) the severe disease, the mild Bethlem myopathy (BM) and the intermediate phenotype. These were not separate entities but represent a continuous clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Hong Kong.
Methods: We reviewed the clinical, pathologic, radiological and genetic features in 8 patients with collagenVI-related myopathy from 8 families, with confirmed mutations of collagen VI-related genes.
Results: One patient showed the phenotype of typical UCMD, 3 patients had the intermediate collagen VI-related myopathies (IM), and 4 patients had the BM phenotype. Based on genetic analysis, all patients had mutation in the triple-helical domain of the COL6A related genes. The mutations affected either in COL6A1, COL6A2, COL6A3 gene and include 8 point mutations, one inframe deletion and one splice site insertion. Dominant negative mutations occur in 6 patients and recessive mutations mainly in 2 patients with BM phenotype. Additionally, we found two novel mutations: NM_001849.3: c.1084_1092del, p.(Ser362_Gly364del)] and NM_001849.3: c.811G>C, p.(Gly271Arg) in COL6A2
Conclusions: Missense mutations in the triple-helical domain of the three major collagen VI genes are the most common mutations related to collagen VI-related myopathy in Hong Kong. Mutations in the triple-helical domain of our patients give rise to a broad clinical spectrum from the mild end to the severe phenotype. |
Description | Session: Muscle and Nerve |
Persistent Identifier | http://hdl.handle.net/10722/277845 |
DC Field | Value | Language |
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dc.contributor.author | Chan, HSS | - |
dc.contributor.author | Kwong, KY | - |
dc.contributor.author | Luk, HM | - |
dc.contributor.author | Lo, IFM | - |
dc.contributor.author | Fung, STH | - |
dc.contributor.author | Tsang, HYM | - |
dc.contributor.author | Chung, BHY | - |
dc.contributor.author | Chan, AOK | - |
dc.date.accessioned | 2019-10-04T08:02:30Z | - |
dc.date.available | 2019-10-04T08:02:30Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | The 15th International Child Neurology Congress (ICNC2018): Protecting the developing brain, Mumbai, India, 15-18 November 2018 | - |
dc.identifier.uri | http://hdl.handle.net/10722/277845 | - |
dc.description | Session: Muscle and Nerve | - |
dc.description.abstract | Background and Purpose: Mutations in collagen VI-related genes (COL6A1, COL6A2, andCOL6A3) cause Ullrich congenital muscular dystrophy (UCMD) the severe disease, the mild Bethlem myopathy (BM) and the intermediate phenotype. These were not separate entities but represent a continuous clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Hong Kong. Methods: We reviewed the clinical, pathologic, radiological and genetic features in 8 patients with collagenVI-related myopathy from 8 families, with confirmed mutations of collagen VI-related genes. Results: One patient showed the phenotype of typical UCMD, 3 patients had the intermediate collagen VI-related myopathies (IM), and 4 patients had the BM phenotype. Based on genetic analysis, all patients had mutation in the triple-helical domain of the COL6A related genes. The mutations affected either in COL6A1, COL6A2, COL6A3 gene and include 8 point mutations, one inframe deletion and one splice site insertion. Dominant negative mutations occur in 6 patients and recessive mutations mainly in 2 patients with BM phenotype. Additionally, we found two novel mutations: NM_001849.3: c.1084_1092del, p.(Ser362_Gly364del)] and NM_001849.3: c.811G>C, p.(Gly271Arg) in COL6A2 Conclusions: Missense mutations in the triple-helical domain of the three major collagen VI genes are the most common mutations related to collagen VI-related myopathy in Hong Kong. Mutations in the triple-helical domain of our patients give rise to a broad clinical spectrum from the mild end to the severe phenotype. | - |
dc.language | eng | - |
dc.publisher | International Child Neurology Association (ICNA). | - |
dc.relation.ispartof | International Child Neurology Congress. Mumbai, India. 2018 | - |
dc.title | Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Chan, HSS: sophehs@hku.hk | - |
dc.identifier.email | Kwong, KY: kkyanna@hku.hk | - |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
dc.identifier.authority | Chan, HSS=rp02210 | - |
dc.identifier.authority | Chung, BHY=rp00473 | - |
dc.identifier.hkuros | 306724 | - |