Literature DB >> 9152842

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

D Steinberger1, H Collmann, B Schmalenberger, U Müller.   

Abstract

We identified a novel mutation in members of a family with signs of Crouzon syndrome and plagiocephaly. In affected members of the family an A-->G transition was found at position 886 in exon 5 of the fibroblast growth factor receptor 2 (FGFR2) gene. The base change results in the replacement of a lysine by glutamic acid in Ig-like loop III of FGFR2. The unusual finding of plagiocephaly in these Crouzon patients may either be the result of the type of mutation or because of genetic and environmental factors that affect the phenotype in addition to the mutated FGF receptor.

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Year:  1997        PMID： 9152842      PMCID： PMC1050952          DOI： 10.1136/jmg.34.5.420

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  21 in total

1.  FGFR2 mutations in Pfeiffer syndrome.

Authors:  E Lajeunie; H W Ma; J Bonaventure; A Munnich; M Le Merrer; D Renier
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

2.  A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Authors:  M Muenke; U Schell; A Hehr; N H Robin; H W Losken; A Schinzel; L J Pulleyn; P Rutland; W Reardon; S Malcolm
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

3.  Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Authors:  E W Jabs; X Li; A F Scott; G Meyers; W Chen; M Eccles; J I Mao; L R Charnas; C E Jackson; M Jaye
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

4.  Molecular modeling based mutagenesis defines ligand binding and specificity determining regions of fibroblast growth factor receptors.

Authors:  T E Gray; M Eisenstein; T Shimon; D Givol; A Yayon
Journal:  Biochemistry       Date:  1995-08-22       Impact factor: 3.162

5.  Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Authors:  A O Wilkie; S F Slaney; M Oldridge; M D Poole; G J Ashworth; A D Hockley; R D Hayward; D J David; L J Pulleyn; P Rutland
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

6.  Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Authors:  P Rutland; L J Pulleyn; W Reardon; M Baraitser; R Hayward; B Jones; S Malcolm; R M Winter; M Oldridge; S F Slaney
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

7.  Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

Authors:  D Steinberger; J B Mulliken; U Müller
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

8.  Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Authors:  W J Park; C Theda; N E Maestri; G A Meyers; J S Fryburg; C Dufresne; M M Cohen; E W Jabs
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

9.  Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Authors:  M Oldridge; A O Wilkie; S F Slaney; M D Poole; L J Pulleyn; P Rutland; A D Hockley; M J Wake; J H Goldin; R M Winter
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150

10.  Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Authors:  U Schell; A Hehr; G J Feldman; N H Robin; E H Zackai; C de Die-Smulders; D H Viskochil; J M Stewart; G Wolff; H Ohashi
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150
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  3 in total

Review 1.  Molecular genetics of craniosynostotic syndromes.

Authors:  U Müller; D Steinberger; S Kunze
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-09       Impact factor: 3.117

Review 2.  Understanding craniosynostosis as a growth disorder.

Authors:  Kevin Flaherty; Nandini Singh; Joan T Richtsmeier
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2016-03-22       Impact factor: 5.814

3.  Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.

Authors:  Ying Lin; Hongbin Gao; Siming Ai; Jacob V P Eswarakumar; Tao Li; Bingqian Liu; Hongye Jiang; Yuhua Liu; Xialin Liu; Yonghao Li; Yao Ni; Jiangna Chen; Zhuoling Lin; Xiaoling Liang; Chenjin Jin; Xinhua Huang; Lin Lu; Yizhi Liu
Journal:  Mol Med Rep       Date:  2016-07-11       Impact factor: 2.952
  3 in total

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