A diagnosis of hypochondroplasia by next generation sequencing.
- Author:
Seok Min AHN
1
;
Young Han KIM
;
Jun Woo BAEK
;
Eun Ju BAE
;
Hong Jin LEE
Author Information
- Publication Type:Case Report
- Keywords: Achondroplasia; Hypochondroplasia; Dwarfism; Receptor; fibroblast growth factor; type 3; High-throughput nucleotide sequencing
- MeSH: Achondroplasia; Diagnosis*; Dwarfism; Extremities; Fibroblast Growth Factors; Genu Varum; Hand; Head; High-Throughput Nucleotide Sequencing; Humans
- From:Journal of Genetic Medicine 2016;13(1):46-50
- CountryRepublic of Korea
- Language:English
- Abstract: Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.
