The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan
The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan
Niaz Muhammad1, Samina Yasin1, Zunaira Fatima1, Noor ul Ain1,
Muhammad Faizan2 and Sadaf Naz1*
ABSTRACT
Achondroplasia is an autosomal dominant disorder of rhizomelic dwarfism. It is predominantly caused by de novo mutations in FGFR3. This study was aimed to determine the common variants of FGFR3 in one inherited, and eighteen sporadic cases of achondroplasia from Pakistan. Sanger sequencing analysis of FGFR3 exon 9 revealed that more than 90%cases had the c.1138G>A p.(Gly380Arg) variant. Our results suggest that c.1138G>A variant is the most common cause of achondroplasia in Pakistan, a finding which is similar to that reported for achondroplasia patients from other countries.
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December 2021
Vol. 53, Iss. 6, Pages 2001-2521
