The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan | [Pakistan Journal of Zoology • 2021]

Author(s):

1. Niaz Muhammad: School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus,Lahore,Pakistan

2. Samina Yasin: School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus,Lahore,Pakistan

3. Zunaira Fatima: School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus,Lahore,Pakistan

4. Noor ul Ain: School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus,Lahore,Pakistan

5. Muhammad Faizan: Institute of Process Engineering, University of the Chinese Academy of Sciences,Beijing 100190,China

6. Sadaf Naz: School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, Pakistan

Abstract:

. Achondroplasia is an autosomal dominant disorder of rhizomelic dwarfism. It is predominantly caused byde novo mutations in FGFR3. This study was aimed to determine the common variants of FGFR3 in oneinherited, and eighteen sporadic cases of achondroplasia from Pakistan. Sanger sequencing analysis ofFGFR3 exon 9 revealed that more than 90% cases had the c.1138G>A p.(Gly380Arg) variant. Our resultssuggest that c.1138G>A variant is the most common cause of achondroplasia in Pakistan, a finding whichis similar to that reported for achondroplasia patients from other countries.

Page(s): 2519-2521

DOI: 10.17582/journal.pjz/20191126061137

Published: Journal: Pakistan Journal of Zoology, Volume: 53, Issue: 6, Year: 2021

Keywords:

Rhizomelic dwarfism , FGFR3 , Hypochondroplasia , Skeletal dysplasia

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