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:	Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang
Format:	Article
Language:	English
Published:	Hindawi Limited 2018-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2018/8090797

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spelling	doaj-ee3236a33876434dae2d4eeef66ce0862020-11-24T21:18:00ZengHindawi LimitedCase 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
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Xike Wang Yue Wu Yuxia Cui Nan Wang Lasse Folkersen Yuchuan Wang
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
author_facet	Xike Wang Yue Wu Yuxia Cui Nan Wang Lasse Folkersen Yuchuan Wang
author_sort	Xike Wang
title	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_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_sort	novel trappc11 mutations in a chinese pedigree of limb girdle muscular dystrophy
publisher	Hindawi Limited
series	Case Reports in Genetics
issn	2090-6544 2090-6552
publishDate	2018-01-01
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.
url	http://dx.doi.org/10.1155/2018/8090797
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Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

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