title: [Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
abstract: Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.
authors.affiliation: Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Imagawa
authors.affiliation: Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000235:genetics; D059472:Exome; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D019637:Orthopedic Procedures / Q000379:methods*
chemical_list: D018398:Homeodomain Proteins; C099959:homeobox protein HOXA13