Literature DB >> 11140409

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.

G Lucotte1, C Bathelier, G Mercier, N Gérard, G Lenoir, O Sémonin, K Fontaine.   

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of muscles. To identify the chromosomal localization of the FOP gene, we conducted a genomewide linkage analysis using seven affected families. The FOP phenotype is linked to markers located in the 17q21-22 region (LOD score of 3.41 at the recombination fraction theta = 0). Crossover events localize the putative FOP gene within a 12cM interval, bordered proximally by D17S809 and distally by D17S1838. Noggin (NOG) gene, located in 17q22, is an excellent candidate gene for FOP.

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Year:  2000        PMID: 11140409

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  4 in total

1.  Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

Authors:  Julia Zimmer; Sandra C Doelken; Denise Horn; Jay C Groppe; Eileen M Shore; Frederick S Kaplan; Petra Seemann
Journal:  PLoS One       Date:  2012-04-18       Impact factor: 3.240

2.  Biological activity of a genetically modified BMP-2 variant with inhibitory activity.

Authors:  Uwe Klammert; Joachim Nickel; Kristian Würzler; Christoph Klingelhöffer; Walter Sebald; Alexander C Kübler; Tobias Reuther
Journal:  Head Face Med       Date:  2009-02-02       Impact factor: 2.151

3.  Stone man: a case report.

Authors:  Hamed Mortazavi; Majid Eshghpour; Mahdi Niknami; Morteza Saeedi
Journal:  Iran J Radiol       Date:  2012-12-27       Impact factor: 0.212

Review 4.  Recent Topics in Fibrodysplasia Ossificans Progressiva.

Authors:  Takenobu Katagiri; Sho Tsukamoto; Yutaka Nakachi; Mai Kuratani
Journal:  Endocrinol Metab (Seoul)       Date:  2018-09
  4 in total

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