Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A diagnosis of hypochondroplasia by next generation sequencing

  • Ahn, Seok Min (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Kim, Young Han (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Baek, Jun Woo (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Bae, Eun Ju (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital)
  • Received : 2016.03.30
  • Accepted : 2016.06.01
  • Published : 2016.06.30
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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.

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References

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