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

Hyunwoong Park, Susie Hong, Sung Im Cho, Tae Joon Cho, In Ho Choi, Dong Kyu Jin, Young Bae Sohn, Sung Won Park, Hyun Hae Cho, Jung Eun Cheon, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon Woo Seong

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish
Pages (from-to)175-179
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume58
Issue number3
DOIs
StatePublished - 1 Mar 2015

Keywords

  • COL10A1
  • Collagen type X
  • Schmid metaphyseal chondrodysplasia

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