title: Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
abstract: Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. MCDS is a relatively common form of MCD. Most mutations that cause MCDS occur within the carboxyl-terminal non-collagenous domain (NC1) of the COL10A1 gene. We performed mutational analysis of the COL10A1 genes in 4 unrelated Korean patients with diagnosed MCDS. Mutational analysis of COL10A1 identified c.1904_1915delinsT (p.Gln635LeufsX10) and c.1969dupG (p.Ala657GlyfsX10), 2 novel frameshift mutations, and c.2030T>A (p.Val677Glu) and c.862G>C (p.Gly288Arg) at unusual mutational sites, which could be pathogenic. We present the first report of the molecular characteristics of MCDS in 4 Korean patients. Our findings suggest that a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild MCDS.
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Hyunwoong
authors.initials: H
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Susie
authors.initials: S
authors.lastname: Hong
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.affiliation: Department of Orthopedic Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.affiliation: Department of Orthopedic Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.affiliation: Department of Radiology, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Hyun-Hae
authors.initials: HH
authors.lastname: Cho
authors.affiliation: Department of Radiology, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Cheon
authors.affiliation: Department of Laboratory Medicine, National Medical Center, Seoul, South Korea.
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea. Electronic address: mwseong@snu.ac.kr.
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D024161:Collagen Type XI / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C574182:COL11A1 protein, human; D024161:Collagen Type XI
keywords: COL10A1; Collagen type X; Schmid metaphyseal chondrodysplasia