A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.
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.
Baynam
Gareth S
GS
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
Goldblatt
Jack
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005260:Female; D018197:Hepatoblastoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3