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Article

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

American journal of human genetics - 1 Sept 1998

Wilkin D J, Szabo J K, Cameron R, Henderson S, Bellus G A, Mack M L, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano C A

Abstract excerpt

More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. Sporadic cases of achondroplasia have been associated with advanced paternal age, suggesting that these mutations occur preferentially during spermatogenesis. We have determined the parental origin of the...

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Identifiers

PMID: 9718331
DOI: 10.1086/302000
PMCID: PMC1377389

Genes

FGFR3

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.PMID 9718331Read ↗

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