Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy
Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related fun...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/8090797 |
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| _version_ | 1832563056508403712 |
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| author | Xike Wang Yue Wu Yuxia Cui Nan Wang Lasse Folkersen Yuchuan Wang |
| author_facet | Xike Wang Yue Wu Yuxia Cui Nan Wang Lasse Folkersen Yuchuan Wang |
| author_sort | Xike Wang |
| collection | DOAJ |
| description | Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the TRAPPC11 gene. Further, from parental sequencing we determined the mode of transmission, a double heterozygous mutation at the maternal and paternal alleles. The two mutations detected have not been described in other patients. |
| format | Article |
| id | doaj-art-ee3236a33876434dae2d4eeef66ce086 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-ee3236a33876434dae2d4eeef66ce0862025-02-03T01:21:15ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/80907978090797Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular DystrophyXike Wang0Yue Wu1Yuxia Cui2Nan Wang3Lasse Folkersen4Yuchuan Wang5Department of Pediatrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 559992, ChinaDepartment of Pediatrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 559992, ChinaDepartment of Pediatrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 559992, ChinaDepartment of Pediatrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 559992, ChinaSankt Hans Hospital, Capital Region Denmark, Roskilde 4000, DenmarkDepartment of Pediatrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou 559992, ChinaLimb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the TRAPPC11 gene. Further, from parental sequencing we determined the mode of transmission, a double heterozygous mutation at the maternal and paternal alleles. The two mutations detected have not been described in other patients.http://dx.doi.org/10.1155/2018/8090797 |
| spellingShingle | Xike Wang Yue Wu Yuxia Cui Nan Wang Lasse Folkersen Yuchuan Wang Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Case Reports in Genetics |
| title | Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy |
| title_full | Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy |
| title_fullStr | Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy |
| title_full_unstemmed | Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy |
| title_short | Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy |
| title_sort | novel trappc11 mutations in a chinese pedigree of limb girdle muscular dystrophy |
| url | http://dx.doi.org/10.1155/2018/8090797 |
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