Determination of FGFR3 gene mutations in people with achondroplasia
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Abstract
Achondroplasia (ACH) is the most common form of dwarfism in human. The disease is transmitted in an autosomal dominant manner and is caused by pathogenic missense variants in FGFR3 (often de novo mutation), which encodes fibroblast growth factor receptor 3 (FGFR3). The p.Gly380Arg variant is found in 98 - 99% of ACH individuals. Genetic testing can distinguish ACH from other skeletal dysplasias and can enable increased precision in clinical studies and practices. In addition, detecting FGFR3 gene mutations in ACH individials is an important scientific basis for genetic counseling, prenatal diagnosis, and pre-implantation. The study was conducted on 10 unrelated ACH cases and their parents and siblings using Sanger sequencing. The results identified 10/10 (100%) cases carrying the heterozygous mutation c.1138G>A (p.Gly380Arg) in exon 10 of the FGFR3 gene. Family members did not carry the disease-causing mutation.
Article Details
Keywords
Achondroplasia, ACH, FGFR3, c.1138G>A
References
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