A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions

Gareth S Baynam; Jack Goldblatt

doi:10.1375/twin.13.4.297

A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions

Twin Res Hum Genet. 2010 Aug;13(4):297-300. doi: 10.1375/twin.13.4.297.

Authors

Gareth S Baynam¹, Jack Goldblatt

Affiliation

¹ Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of Western Australia, Australia. Gareth.Baynam@health.wa.gov.au

PMID: 20707699
DOI: 10.1375/twin.13.4.297

Abstract

We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes. The clinical features possibly result from the combined effects of the maternal diabetes and the familial FGFR3 mutation, thus representing a unique gene-environment interaction that may have implications for the understanding of the phenotypes described in this child.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Child, Preschool
Craniosynostoses / complications
Craniosynostoses / genetics
Craniosynostoses / physiopathology
Female
Hepatoblastoma / complications
Hepatoblastoma / diagnosis
Hepatoblastoma / genetics*
Humans
Liver Neoplasms / complications
Liver Neoplasms / diagnosis
Liver Neoplasms / genetics*
Mutation*
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 / genetics*

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3