Literature DB >> 7752132

Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.

D Chan1, J F Rogers, J F Bateman, W G Cole.   

Abstract

A child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of alpha 1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of the COL2A1 gene. The amino acid substitution involved the Y position of a Gly-X-Y triplet.

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Year:  1995        PMID： 7752132

Source DB:  PubMed          Journal:  J Rheumatol Suppl        ISSN： 0380-0903


  4 in total

1.  The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Authors:  K P Hoornaert; C Dewinter; I Vereecke; F A Beemer; W Courtens; A Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; D L Rimoin; L Siderius; A Superti-Furga; K Temple; P J Willems; A Zankl; C Zweier; A De Paepe; P Coucke; G R Mortier
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

2.  Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Authors:  G R Mortier; M Weis; L Nuytinck; L M King; D J Wilkin; A De Paepe; R S Lachman; D L Rimoin; D R Eyre; D H Cohn
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

3.  A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Authors:  Robert C Gensure; Outi Mäkitie; Catherine Barclay; Catherine Chan; Steven R Depalma; Murat Bastepe; Hilal Abuzahra; Richard Couper; Stefan Mundlos; David Sillence; Leena Ala Kokko; Jonathan G Seidman; William G Cole; Harald Jüppner
Journal:  J Clin Invest       Date:  2005-05       Impact factor: 14.808

4.  A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Authors:  Leah Rae Donahue; Bo Chang; Subburaman Mohan; Nao Miyakoshi; Jon E Wergedal; David J Baylink; Norman L Hawes; Clifford J Rosen; Patricia Ward-Bailey; Qing Y Zheng; Roderick T Bronson; Kenneth R Johnson; Muriel T Davisson
Journal:  J Bone Miner Res       Date:  2003-09       Impact factor: 6.741
  4 in total

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