Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

@article{Moloney1997PrevalenceOP,
  title={Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis},
  author={D. Moloney and S. Wall and G. Ashworth and M. Oldridge and A. Wilkie},
  journal={The Lancet},
  year={1997},
  volume={349},
  pages={1059-1062}
}
BACKGROUND The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation. METHODS We studied 26 patients with coronal craniosynostosis but no syndromic diagnosis, who were referred to a supra-regional specialist centre. Genomic DNA was analysed by PCR and restriction… Expand
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135 Citations
Highly Influential Citations
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Background Citations
54
Methods Citations
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Results Citations
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Paper Mentions

Observational Clinical Trial
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the… Expand
ConditionsCraniosynostosis, Muenke Syndrome
National Institutes of Health Clinical Center (CC)
March 2005 - March 2020

135 Citations

Citation Type

Citation Type

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
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New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
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  • Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
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FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal Craniosynostosis
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Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
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Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
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Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
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Mutations in the FGFR3 gene have been implicated in a various skeletal dysplasias in human beings.
Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients
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  • Highly Influenced
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
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