Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene

Dau Ming Niu, Kwang Jen Hsiao, Nai Hwei Wang, Lin Show Chin, Chia Hsiang Chen*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

12 Scopus citations

Abstract

Achondroplasia is the most common form of dwarfism in humans. A recurrent glycine-to-arginine mutation at codon 380 (G380R) of the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) was identified in the majority of Western and Japanese patients, which is uncommon in other autosomal dominant genetic diseases. To determine whether this mutation is also common in Chinese patients, we examined the G380R mutation in Chinese patients with achondroplasia. Of ten patients studied, including eight sporadic cases and one family with two affected members, all have the same G380R mutation with a G-to-A transition. Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.

Original languageEnglish
Pages (from-to)65-67
Number of pages3
JournalHuman Genetics
Volume98
Issue number1
DOIs
StatePublished - 07 1996
Externally publishedYes

Fingerprint

Dive into the research topics of 'Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene'. Together they form a unique fingerprint.

Cite this