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A novel variant of FGFR3 causes proportionate short stature by Sarina G Kant; Iveta Cervenkova; Lukas Balek; Lukas Trantirek; Gijs W E Santen; Martine C de Vries; Hermine A van Duyvenvoorde; Michiel J R van der Wielen; Annemieke J M H Verkerk; André G Uitterlinden; Sabine E Hannema; Jan M Wit; Wilma Oostdijk; Pavel Krejci; Monique Losekoot is a Medicine article available to read on EtoBox.
What is A novel variant of FGFR3 causes proportionate short stature about?
## Objective Mutations of the fibroblast growth factor receptor 3 (__FGFR3__) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature. Testing for an __FGFR3__ mutation is currently not part of routine diagnostic testing in children with short stature without disproportion. ## Design A three-generation family A with dominantly transmitted proportionate short stature was studied by whole-exome sequencing to identify the causal gene mutation. Functional studies and protein modeling studies were performed to confirm the pathogenicity of the mutation found in __FGFR3__. We performed Sanger sequencing in a second family B with dominant proportionate short stature and identified a rare variant in __FGFR3__. ## Methods Exome sequencing and/or Sanger sequencing was performed, followed by functional studies using transfection of the mutant __FGFR3__ into cultured cells; homology modeling was used to construct a three-dimensional model of the two __FGFR3__ variants. ## Results A novel p.M528I mutation in __FGFR3__ was detected in family A, which segregates with short stature and proved to be activa
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- Author
- Sarina G Kant; Iveta Cervenkova; Lukas Balek; Lukas Trantirek; Gijs W E Santen; Martine C de Vries; Hermine A van Duyvenvoorde; Michiel J R van der Wielen; Annemieke J M H Verkerk; André G Uitterlinden; Sabine E Hannema; Jan M Wit; Wilma Oostdijk; Pavel Krejci; Monique Losekoot
- Publisher
- Oxford University Press (OUP)
- Published
- 2015
- Language
- EN
- Field
- Medicine (Health Sciences)