title: Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
abstract: Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently, including more frequent cardiorespiratory monitoring and prophylactic treatments. The aim of this study was to identify the responsible gene in a five-generation Chinese Han pedigree with autosomal recessive LGMD. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with the disorder in the family and was absent in normal controls. Our discovery broadens the mutation spectrum of the TTN gene associated with LGMD2J.
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.|Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zheng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Han
authors.initials: H
authors.lastname: Chen
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.|Department of Clinical Laboratory, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China. hdeng008@yahoo.com.|Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China. hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D064211:Connectin / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D064211:Connectin
keywords: Exome sequencing; Genetic testing; Limb-girdle muscular dystrophies; Mutation; TTN