Literature DB >> 30209734

Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.

Manisha Goyal1, Ashok Gupta2, Anita Choudhary3, Anu Bhandari4.   

Abstract

Schmid type metaphyseal chondrodysplasia (SMCD) is a rare skeletal dysplasia, characterized by short stature, short limbs, bowing of the legs, and radiographic features of metaphyseal irregularities with fraying and splaying, more severe at the knee. It is caused by mutations of the COL10A1 gene. The authors present an Indian patient with a novel COL10A1 gene mutation.

Entities:  

Keywords:  COL10A1 mutations; Chondrodysplasia; Metaphyseal irregularity

Mesh：

Substances：

Year:  2018        PMID： 30209734     DOI： 10.1007/s12098-018-2791-0

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  Isolation of human type X collagen and immunolocalization in fetal human cartilage.

Authors:  T Kirsch; K von der Mark
Journal:  Eur J Biochem       Date:  1991-03-28

2.  Schmid type metaphyseal chondrodysplasia.

Authors:  Sankalp Gokhale; Sunil Mehta
Journal:  Indian Pediatr       Date:  2005-12       Impact factor: 1.411

Review 3.  The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper.

Authors:  J Engel; D J Prockop
Journal:  Annu Rev Biophys Biophys Chem       Date:  1991

4.  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

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

Review 6.  Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.

Authors:  R S Lachman; D L Rimoin; J Spranger
Journal:  Pediatr Radiol       Date:  1988

7.  Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Authors:  John F Bateman; Richard Wilson; Susanna Freddi; Shireen R Lamandé; Ravi Savarirayan
Journal:  Hum Mutat       Date:  2005-06       Impact factor: 4.878

8.  Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.

Authors:  R Savarirayan; V Cormier-Daire; R S Lachman; D L Rimoin
Journal:  Pediatr Radiol       Date:  2000-07

9.  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
  9 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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