title: A novel mutation in the C-propeptide ofCOL2A1causes atypical spondyloepiphyseal dysplasia congenita.
abstract: Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in theCOL2A1gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region ofCOL2A1. This case suggests that aCOL2A1C-propeptide mutation can cause atypical SEDC.
authors.affiliation: Department of Pediatrics, Ota Memorial Hospital , Gunma, Japan.
authors.forename: Chieko
authors.initials: C
authors.lastname: Kusano
authors.affiliation: Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Pediatrics, Ota Memorial Hospital , Gunma, Japan.
authors.forename: Naoaki
authors.initials: N
authors.lastname: Hori
authors.affiliation: Division of Maternal and Fetal Medicine, Miyagi Children's Hospital , Miyagi, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Murotsuki
authors.affiliation: Department of Radiology, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa