A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible
Gareth S Baynam1, Jack Goldblatt
1Genetic 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
Insights
A child with a rare FGFR3 mutation and craniosynostosis developed a laterality disorder and hepatoblastoma. This suggests a gene-environment interaction with maternal diabetes may influence developmental phenotypes.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Fibroblast Growth Factor Receptor 3 (FGFR3) mutations are associated with various skeletal dysplasias and craniosynostosis.
- Gene-environment interactions are increasingly recognized as critical factors in complex disease development.
- Maternal diabetes is a known risk factor for congenital anomalies.
Observation:
- A 3-year-old girl presented with craniosynostosis, a laterality disorder, and hepatoblastoma.
- The patient's family had a history of an FGFR3 Pro250Arg mutation across three generations.
- The pregnancy was complicated by maternal insulin-dependent diabetes.
Findings:
- The child's phenotype, including craniosynostosis, laterality disorder, and hepatoblastoma, may result from a combination of genetic and environmental factors.
- The Pro250Arg mutation in FGFR3 was identified in the affected child and family members.
- Maternal insulin-dependent diabetes during pregnancy was noted as a potential contributing factor.
Implications:
- This case highlights a potential unique gene-environment interaction involving FGFR3 mutations and maternal diabetes.
- Understanding such interactions is crucial for comprehending the diverse phenotypes associated with FGFR3-related disorders.
- Further research into gene-environment interactions could refine diagnostic and therapeutic strategies for developmental disorders.
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.
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