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KMID : 1189120160130010046
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대한의학유전학회지
2016 Volume.13 No. 1 p.46 ~ p.50
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A diagnosis of hypochondroplasia by next generation sequencing
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Ahn Seok-Min
Kim Young-Han
Baek Jun-Woo
Bae Eun-Ju
Lee Hong-Jin
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Abstract
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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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KEYWORD
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Achondroplasia, Hypochondroplasia, Dwarfism, Receptor, fibroblast growth factor, type 3, High-throughput nucleotide sequencing
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