Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia

Seiwon Yang, Hiroshi Kitoh, Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Research output: Contribution to journalArticle

Abstract

Abstract Background. Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. Methods: We investigated the mutations in the gene encoding FGFR-3 in 15 Korean children with ACH, using polymerase chain reaction (PCR) coupled with direct sequencing. Results: In this study, all children with ACH showed the same mutation as those reported in France, USA and Japan; a G→A transition at position 1138 of the coding sequence, resulting in the substitution of arginine for glycine at position 380 of the mature protein. Conclusions: This consistent point mutation of Korean children with ACH indicates there is no significant racial difference in the pathogenesis of ACH, compared with data from Caucasian and Japanese children with ACH.

Original languageEnglish
Pages (from-to)324-327
Number of pages4
JournalPediatrics International
Volume40
Issue number4
DOIs
StatePublished - 1 Jan 1998

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Receptor, Fibroblast Growth Factor, Type 3
Achondroplasia
Mutation
Genes
Point Mutation
Osteochondrodysplasias
Glycine
France
Arginine
Japan
Chromosomes
Polymerase Chain Reaction

Keywords

  • Achondroplasia
  • Fibroblast growth factor receptor-3
  • Point mutation

Cite this

Yang, Seiwon ; Kitoh, Hiroshi ; Yamada, Yasukazu ; Goto, Haruko ; Ogasawara, Nobuaki. / Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. In: Pediatrics International. 1998 ; Vol. 40, No. 4. pp. 324-327.
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Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. / Yang, Seiwon; Kitoh, Hiroshi; Yamada, Yasukazu; Goto, Haruko; Ogasawara, Nobuaki.

In: Pediatrics International, Vol. 40, No. 4, 01.01.1998, p. 324-327.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia

AU - Yang, Seiwon

AU - Kitoh, Hiroshi

AU - Yamada, Yasukazu

AU - Goto, Haruko

AU - Ogasawara, Nobuaki

PY - 1998/1/1

Y1 - 1998/1/1

N2 - Abstract Background. Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. Methods: We investigated the mutations in the gene encoding FGFR-3 in 15 Korean children with ACH, using polymerase chain reaction (PCR) coupled with direct sequencing. Results: In this study, all children with ACH showed the same mutation as those reported in France, USA and Japan; a G→A transition at position 1138 of the coding sequence, resulting in the substitution of arginine for glycine at position 380 of the mature protein. Conclusions: This consistent point mutation of Korean children with ACH indicates there is no significant racial difference in the pathogenesis of ACH, compared with data from Caucasian and Japanese children with ACH.

AB - Abstract Background. Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. Methods: We investigated the mutations in the gene encoding FGFR-3 in 15 Korean children with ACH, using polymerase chain reaction (PCR) coupled with direct sequencing. Results: In this study, all children with ACH showed the same mutation as those reported in France, USA and Japan; a G→A transition at position 1138 of the coding sequence, resulting in the substitution of arginine for glycine at position 380 of the mature protein. Conclusions: This consistent point mutation of Korean children with ACH indicates there is no significant racial difference in the pathogenesis of ACH, compared with data from Caucasian and Japanese children with ACH.

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