J Genet Med.  2016 Jun;13(1):46-50. 10.5734/JGM.2016.13.1.46.

A diagnosis of hypochondroplasia by next generation sequencing

• Ahn SM
• Kim YH
• Baek JW
• Bae EJ
• Lee HJ

• KMID: 2327703
• DOI: http://doi.org/10.5734/JGM.2016.13.1.46

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.

Keyword

Achondroplasia; Hypochondroplasia; Dwarfism; Receptor; fibroblast growth factor; type 3; High-throughput nucleotide sequencing

MeSH Terms

Achondroplasia
Diagnosis*
Dwarfism
Extremities
Fibroblast Growth Factors
Genu Varum
Hand
Head
High-Throughput Nucleotide Sequencing
Humans
Fibroblast Growth Factors