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Updated: Feb 28, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A homozygous variant in FGFR3 causing lethal skeletal dysplasia
Zuhair Rahbeeni1, Hamdan Al-Shahrani2, Mohamed Noon2,3
1Medical Genomic Department, Centre of Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
None:
Homozygous achondroplasia, due to biallelic pathogenic Fibroblast Growth Factor Receptor 3 (FGFR3) variants, is the homozygous lethal expression of an autosomal dominant skeletal dysplasia and is clinically distinct from the classical heterozygous form. We describe a male infant born to two achondroplastic heterozygous parents with severe rhizomelic shortening and radiographic features typical of homozygous achondroplasia. Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3. The infant developed progressive respiratory compromise and died at 63 days of age due to pulmonary hypoplasia-related respiratory failure.
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