title: [Genetic analysis and prenatal diagnosis of Xp deletion in a family with Duchenne/Becker muscular dystrophy].
abstract: OBJECTIVE To delineate a deletional mutation of the Dystrophin gene on the short arm of chromosome X in a family affected with Duchenne/Becker muscular dystrophy. METHODS G-banded karyotyping, multiple ligation probe amplification (MLPA), array-based comparative genomic hybridization(array-CGH) and whole genome exon high-throughput sequencing were employed to delineate the mutation in the family. RESULTS GTG banding has demonstrated deletion of the terminal part of the short arm of chromosome X in the fetus. The same deletion was also found in its mother and maternal grandmother. MLPA analysis has revealed removal of exons 52 to 79 of the Dystrophin gene. A 30 Mb deletion in Xp22.33-p21.1 and a 10 Mb duplication in Xq27.2-q28 were identified by array-CGH and whole genome exon high-throughput sequencing. CONCLUSION The Xp deletion has led to deletion of exons 52 to 79 of the Dystrophin gene in the family. The female carriers also had certain features of Turner syndrome due to the same deletion.
authors.affiliation: College of Life Science and Technology, Key Laboratory for Birth Defects and Genetic Diseases, The Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan 650500, P.R. China. Email: bszhu@aliyun.com.
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Tang
authors.forename: Bicheng
authors.initials: B
authors.lastname: Yang
authors.forename: Jie
authors.initials: J
authors.lastname: Su
authors.forename: Fuman
authors.initials: F
authors.lastname: Jiang
authors.forename: Baosheng
authors.initials: B
authors.lastname: Zhu
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D011296:Prenatal Diagnosis