1 results match your criteria: "The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA[Affiliation]"
A novel variant of FGFR3 causes proportionate short stature.
Eur J Endocrinol
June 2015
Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Article Synopsis
- Mutations in the FGFR3 gene can lead to various forms of short stature, including hypochondroplasia, but routine testing for these mutations is not done for children without disproportionate short stature.
- A family study using whole-exome sequencing identified a novel FGFR3 mutation (p.M528I) linked to short stature, while a second family had a rare variant (p.F384L) that did not correlate with this condition.
- The findings suggest that testing for FGFR3 mutations should be considered for individuals with proportionate short stature, particularly when there's a history of autosomal dominant inheritance, but additional functional tests are crucial to confirm pathogenicity.