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A Child With an FGFR3 Mutation, a Laterality Disorder and an Hepatoblastoma: Novel Associations and Possible Gene–Environment Interactions

Published online by Cambridge University Press:  21 February 2012

Gareth S. Baynam  and
Jack Goldblatt
Gareth S. Baynam*
Affiliation:
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
Jack Goldblatt
Affiliation:
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.
*
*Address for correspondence: Gareth Baynam, Genetic Services of Western Australia, Level 3 Agnes Walsh House, King Edward Memorial Hospital, 6008, Western Australia, Australia.

Abstract

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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.

Keywords

lateralityFGFR3hepatoblastoma
Type
Articles
Information
Twin Research and Human Genetics , Volume 13 , Issue 4 , 01 August 2010 , pp. 297 - 300
Copyright
Copyright © Cambridge University Press 2010