Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

Muhammad Umair; Muhammad Bilal; Raja H. Ali; Bader Alhaddad; Farooq Ahmad; Abdullah; Tobias B. Haack; Majid Alfadhel; Muhammad Ansar; Thomas Meitinger; Wasim Ahmad

doi:10.1111/cge.13547

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

Muhammad Umair, Muhammad Bilal, Raja H. Ali, Bader Alhaddad, Farooq Ahmad, Abdullah, Tobias B. Haack, Majid Alfadhel, Muhammad Ansar, Thomas Meitinger, Wasim Ahmad

Medicine and Health

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

9 Scopus citations

Abstract

Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.

Original language	English
Pages (from-to)	134-139
Number of pages	6
Journal	Clinical Genetics
Volume	96
Issue number	2
DOIs	https://doi.org/10.1111/cge.13547
State	Published - Aug 2019

Keywords

STKLD1
limb anomaly
nonsense variant
pre-axial polydactyly
serine-threonine kinase

Access to Document

10.1111/cge.13547

Cite this

@article{41e5ba0daf69471e9740215fa3175e9e,

title = "Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb",

abstract = "Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.",

keywords = "STKLD1, limb anomaly, nonsense variant, pre-axial polydactyly, serine-threonine kinase",

author = "Muhammad Umair and Muhammad Bilal and Ali, {Raja H.} and Bader Alhaddad and Farooq Ahmad and Abdullah and Haack, {Tobias B.} and Majid Alfadhel and Muhammad Ansar and Thomas Meitinger and Wasim Ahmad",

note = "Publisher Copyright: {\textcopyright} 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",

year = "2019",

month = aug,

doi = "10.1111/cge.13547",

language = "English",

volume = "96",

pages = "134--139",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "2",

}

TY - JOUR

T1 - Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

AU - Umair, Muhammad

AU - Bilal, Muhammad

AU - Ali, Raja H.

AU - Alhaddad, Bader

AU - Ahmad, Farooq

AU - Abdullah,

AU - Haack, Tobias B.

AU - Alfadhel, Majid

AU - Ansar, Muhammad

AU - Meitinger, Thomas

AU - Ahmad, Wasim

PY - 2019/8

Y1 - 2019/8

N2 - Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.

AB - Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.

KW - STKLD1

KW - limb anomaly

KW - nonsense variant

KW - pre-axial polydactyly

KW - serine-threonine kinase

UR - http://www.scopus.com/inward/record.url?scp=85064663425&partnerID=8YFLogxK

U2 - 10.1111/cge.13547

DO - 10.1111/cge.13547

M3 - Article

C2 - 30945277

AN - SCOPUS:85064663425

SN - 0009-9163

VL - 96

SP - 134

EP - 139

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this