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Eur J Med Genet. 2015 Mar;58(3):175-9. doi: 10.1016/j.ejmg.2014.12.011. Epub 2014 Dec 24.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

Author information

1
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
2
Department of Orthopedic Surgery, Seoul National University Hospital, Seoul, South Korea.
3
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
4
Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
5
Department of Radiology, Seoul National University Hospital, Seoul, South Korea.
6
Department of Laboratory Medicine, National Medical Center, Seoul, South Korea.
7
Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea.
8
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea.
9
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea. Electronic address: mwseong@snu.ac.kr.

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.

KEYWORDS:

COL10A1; Collagen type X; Schmid metaphyseal chondrodysplasia

PMID:
25542771
DOI:
10.1016/j.ejmg.2014.12.011
[Indexed for MEDLINE]

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