Literature DB >> 31191206

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

Francisco Cammarata-Scalisi1, Uta Matysiak2, Tanja Velten2, Michele Callea3, Dianora Araque1, Colin E Willoughby4, Angela Galeotti3, Andrea Avendaño1.   

Abstract

Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894_1895dupTA; p.Leu633Thrfs*45) duplication in exon 3 of the COL10A1 gene.

Entities:  

Keywords:  COL10A1 mutation; Schmid-type metaphyseal chondrodysplasia

Year:  2019        PMID： 31191206      PMCID： PMC6528095          DOI： 10.1159/000496553

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  7 in total

1.  A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.

Authors:  Yimin Zhu; Liping Li; Lijun Zhou; Haibo Mei; Ke Jin; Kun Liu; Wei Xu; Jinsong Tang; Yongjia Yang; Rui Zhao; Xinyu He
Journal:  Clin Chim Acta       Date:  2011-04-05       Impact factor: 3.786

2.  Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.

Authors:  Julia V Woelfle; R E Brenner; B Zabel; H Reichel; M Nelitz
Journal:  J Orthop Sci       Date:  2011-03-02       Impact factor: 1.601

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

Authors:  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
Journal:  Eur J Med Genet       Date:  2014-12-24       Impact factor: 2.708

4.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

5.  Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

Authors:  Outi Mäkitie; Miki Susic; Leanne Ward; Catherine Barclay; Francis H Glorieux; William G Cole
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

6.  Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data.

Authors:  Bing Wang; Li He; Wusheng Miao; Ge Wu; Hai Jiang; Yongtao Wu; Jining Qu; Min Li
Journal:  Int J Mol Med       Date:  2017-04-19       Impact factor: 4.101

7.  A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

Authors:  Shinji Higuchi; Masaki Takagi; Satoshi Shimomura; Gen Nishimura; Yukihiro Hasegawa
Journal:  Clin Pediatr Endocrinol       Date:  2016-07-20
  7 in total
  3 in total

1.  A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Authors:  Mushtaq Ahmed; Saad Nasir; Syeda Shaheera Riaz Hashmi; Zia Iqbal; Ayesha Saleem
Journal:  Cureus       Date:  2020-03-23

2.  Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.

Authors:  Lingchi Kong; Li Shi; Wenbo Wang; Rongtai Zuo; Mengwei Wang; Qinglin Kang
Journal:  BMC Med Genet       Date:  2019-12-19       Impact factor: 2.103

3.  A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.

Authors:  Qiong Chen; Sheng-Nan Wu; Yong-Xing Chen; Selvaa Kumar C; Lu Zhang; Hai-Yan Wei; Senthil Arun Kumar
Journal:  Bone Rep       Date:  2019-12-13
  3 in total

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