title: A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.
abstract: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Nakagawa
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Suga
authors.affiliation: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Goji
authors.affiliation: Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Kagami
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto