title: Splicing mutation of a gene within the Duchenne muscular dystrophy family.
abstract: The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Capture sequencing of second-generation exons was used to investigate the DMD gene in a proband. Sanger sequencing was performed for mutation scanning in eight family members. Scale-invariant feature transform and PolyPhen were applied to predict the functional impact of protein mutations. A hemizygous splicing mutation IVS44ds +1G-A (c.6438 +1G>A) that induces abnormal splicing variants during late transcription and produces abnormal proteins was located in intron 44. Four missense mutations (p.Arg2937Gln, p.Asp882Gly, p.Lys2366Gln, and p.Arg1745His) that are known multiple-polymorphic sites were found in the coding region of the DMD gene. A heterozygous c.6438+1G>A mutation was detected on the X chromosome of the proband's mother and maternal grandmother.
authors.affiliation: Provincial Medical College, Fujian Medical University, Fujian University of Traditional Chinese Medicine, Fuzhou, China.|Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China.
authors.forename: Y B
authors.initials: YB
authors.lastname: Zhu
authors.affiliation: School of Clinical Medicine, Capital Medical University, Beijing, China.
authors.forename: J H
authors.initials: JH
authors.lastname: Gan
authors.affiliation: Provincial Medical College, Fujian Medical University, Fujian University of Traditional Chinese Medicine, Fuzhou, China.|Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China.
authors.forename: J W
authors.initials: JW
authors.lastname: Luo
authors.affiliation: Provincial Medical College, Fujian Medical University, Fujian University of Traditional Chinese Medicine, Fuzhou, China.|Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Zheng
authors.affiliation: Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China.
authors.forename: S C
authors.initials: SC
authors.lastname: Wei
authors.affiliation: Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China.
authors.forename: D
authors.initials: D
authors.lastname: Hu
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing
chemical_list: C484258:DMD protein, human; D016189:Dystrophin