The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of achondroplasia in Pakistan

Niaz Muhammad; Samina Yasin; Zunaira Fatima; Noor Ul Ain; Muhammad Faizan; Sadaf Naz

doi:10.17582/journal.pjz/20191126061137

The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of achondroplasia in Pakistan

Niaz Muhammad, Samina Yasin, Zunaira Fatima, Noor Ul Ain, Muhammad Faizan, Sadaf Naz^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English
Pages (from-to)	2519-2521
Number of pages	3
Journal	Pakistan Journal of Zoology
Volume	53
Issue number	6
DOIs	https://doi.org/10.17582/journal.pjz/20191126061137
State	Published - Dec 2021
Externally published	Yes

Bibliographical note

Publisher Copyright:
Copyright 2021 Zoological Society of Pakistan.

Keywords

FGFR3
Hypochondroplasia
Rhizomelic dwarfism
Skeletal dysplasia

ASJC Scopus subject areas

Animal Science and Zoology

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10.17582/journal.pjz/20191126061137

Cite this

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title = "The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of achondroplasia in Pakistan",

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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T1 - The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of achondroplasia in Pakistan

AU - Muhammad, Niaz

AU - Yasin, Samina

AU - Fatima, Zunaira

AU - Ul Ain, Noor

AU - Faizan, Muhammad

AU - Naz, Sadaf

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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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KW - Hypochondroplasia

KW - Rhizomelic dwarfism

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The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of achondroplasia in Pakistan

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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