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

Authors
Park, H | Hong, S | Cho, SI | Cho, TJ | Choi, IH | Jin, DK | Sohn, YB  | Park, SW | Cho, HH | Cheon, JE | Kim, SY | Kim, JY | Park, SS | Seong, MW
Citation
European journal of medical genetics, 58(3). : 175-179, 2015
Journal Title
European journal of medical genetics
ISSN
1769-72121878-0849
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.
MeSH

DOI
10.1016/j.ejmg.2014.12.011
PMID
25542771
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Ajou Authors
손, 영배
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