Deafness due to Pro250Arg mutation of FGFR3.
Mutations in the FGFR3 gene have been implicated in a various skeletal dysplasias in human beings.1 Recently a specific FGFR3 mutation (C749G, Pro250Arg) has been identified in people with craniosynostosis with or without extracranial skeletal abnormalities. About a third of people reported with this mutation have mild to moderate sensorineural hearing loss.2 Moloney and colleagues3 investigated the prevalence of the C749G mutation in FGFR3 patients with coronal craniosynostosis and estimated that the mutation rate is high (8×10−6 per haploid genome). They found variation in the clinical features associated with this mutation. We have identified a family with autosomal dominant craniosynostosis and bilateral sensorineural hearing loss (figure).