title: Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing.
abstract: Dystrophin (DMD) gene is the largest gene containing 79 exons involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting DMD gene mutation in the present study. A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin. In the present study two main methods were used, the next-generation sequencing and the classic Sanger sequencing. The exon capture followed by HiSeq2000 sequencing was specifically used in this study. Combined applications of the next-generation sequencing platform and bioinformatics are proved to be effective methods for DMD diagnosis.
authors.affiliation: Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China.
authors.forename: Shuqi
authors.initials: S
authors.lastname: Xie
authors.forename: Zhangzhang
authors.initials: Z
authors.lastname: Lan
authors.forename: Ning
authors.initials: N
authors.lastname: Qu
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Wei
authors.forename: Ping
authors.initials: P
authors.lastname: Yu
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhu
authors.forename: Guanghui
authors.initials: G
authors.lastname: Yang
authors.forename: Jinming
authors.initials: J
authors.lastname: Wang
authors.forename: Quan
authors.initials: Q
authors.lastname: Shi
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Ling
authors.initials: L
authors.lastname: Yang
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics / Q000502:physiology*; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D012196:Review Literature as Topic
chemical_list: D018389:Codon, Nonsense; C484258:DMD protein, human; D016189:Dystrophin; D020033:Protein Isoforms