Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2004 Aug;115(3):200-7.
doi: 10.1007/s00439-004-1151-5. Epub 2004 Jul 7.

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

Sahan V Rannan-Eliya  1 , Indira B Taylor, I Marieke De Heer, Ans M W Van Den Ouweland, Steven A Wall, Andrew O M Wilkie
Affiliations

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

Sahan V Rannan-Eliya et al. Hum Genet. 2004 Aug.

Abstract

Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifesting one of the highest documented rates for any transversion in the human genome. To understand the biology of this mutation, we have investigated its parental origin, and the ages of the parents, in 19 families with de novo c.749C>G mutations. All ten informative cases originated from the paternal allele (95% confidence interval 74-100% paternal); the average paternal age at birth overall was 34.7 years. An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. We conclude that similar biological processes are likely to shape the occurrence of this c.749C>G mutation as for other mutations of FGFR3 as well as FGFR2.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Am J Med Genet. 1998 Nov 16;80(3):296-7 - PubMed
    1. Am J Hum Genet. 1998 Sep;63(3):711-6 - PubMed
    1. Nature. 1996 Mar 14;380(6570):152-4 - PubMed
    1. Genomics. 1997 Apr 1;41(1):10-6 - PubMed
    1. Nucleic Acids Res. 1989 Apr 11;17(7):2503-16 - PubMed

Publication types

Substances

LinkOut - more resources