Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

ABSTRACT:

Background

Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems. Many of these mutations are highly recurrent and their associated features well documented. Crouzon syndrome is typically caused by heterozygous missense mutations in the third immunoglobulin domain of FGFR2.

Case presentation

Here we describe two families, each segregating a different, previously unreported FGFR2 mutation of the same nucleotide, c.1083A>G and c.1083A>T, both of which encode an apparently synonymous change at the Pro361 codon. We provide experimental evidence that these mutations affect normal FGFR2 splicing and document the clini

SUBMITTER: Fenwick AL 

PROVIDER: S-EPMC4236556 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature