Skip to Main Content

Skip Nav Destination

Article navigation

Research Articles| December 03 2020

A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly

Subject Area: Endocrinology , Further Areas , Genetics , Women's and Children's Health

Muhammad Bilal;

Muhammad Bilal

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan

Search for other works by this author on:

PubMed

Google Scholar

Wasim Ahmad

0000-0003-1541-7258

Wasim Ahmad

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan

[email protected]

Search for other works by this author on:

PubMed

Google Scholar

[email protected]

Mol Syndromol (2021) 12 (1): 20–24.

https://doi.org/10.1159/000512062

Abstract

Postaxial polydactyly (PAP) is characterized by counterproductive 5th digit (pinky finger) duplication on hands and/or feet which often leads to functional complications. To date, at least 11 genes involved in causing various types of nonsyndromic polydactylies have been reported. In the present study, a consanguineous family of Sindhi origin with a segregating nonsyndromic form of PAP in an autosomal recessive manner was clinically and genetically evaluated. Genotyping, using polymorphic microsatellite markers, established linkage in the family on chromosome 5q15 harboring the KIAA0825 gene (MIM 617266). Sequence analysis of the gene revealed a novel frameshift variant leading to a premature stop codon [c.143delG, p.(Cys48Serfs*28)]. This is only the 4th novel variant in the KIAA0825 gene that leads to PAP type A10 (PAPA10) (MIM 618498). Identification of variants in the PAP causative gene will support the diagnosis of patients with limb malformations in the Pakistani population.

References

1.

Aziz

A

,

Irfanullah

I

,

Khan

S

,

Zimri

FK

,

Muhammad

N

,

Rashid

S

, et al.

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families

.

Gene

.

2014

;

534

(

2

):

265

–

71

.

https://doi.org/10.1016/j.gene.2013.10.047

.

2.

Biesecker

LG

.

Polydactyly: how many disorders and how many genes: 2010 update

.

Dev Dyn

.

2011

;

240

(

5

):

931

–

42

.

3.

Hayat

M

,

Umair

M

,

Abbas

S

,

Rauf

A

,

Ahmad

F

,

Ullah

S

, et al.

Identification of novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

.

Genomics

.

2020

;

19

:

30622

–

6

.

4.

Kalsoom

UE

,

Klopocki

E

,

Wasif

N

,

Tariq

M

,

Khan

S

,

Hecht

J

, et al.

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

.

J Med Genet

.

2013

;

50

(

1

):

47

–

53

.

https://doi.org/10.1136/jmedgenet-2012-101219

.

5.

Koscielny

G

,

Yaikhom

G

,

Iyer

V

,

Meehan

TF

,

Morgan

H

,

Atienza-Herrero

J

, et al.

The international mouse phenotyping consortium web portal, a unified point of access for knockout mice and related phenotyping data

.

Nucleic Acids Res

.

2014

;

42

(

Database issue

):

D802

–

9

.

https://doi.org/10.1093/nar/gkt977

.

6.

Malik

S

,

Ullah

S

,

Afzal

M

,

Lal

K

,

Haque

S

.

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

.

Clin Genet

.

2014

;

85

(

5

):

482

–

6

.

https://doi.org/10.1111/cge.12217

.

7.

Stewart

TA

,

Bhat

R

,

Newman

SA

.

The evolutionary origin of digit patterning

.

Evodevo

.

2017

;

8

:

21

.

https://doi.org/10.1186/s13227-017-0084-8

.

8.

Ullah

I

,

Kakar

N

,

Schrauwen

I

,

Hussain

S

,

Chakchouk

I

,

Liaqat

K

, et al.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

.

Hum Genet

.

2019

;

138

(

6

):

593

–

600

.

https://doi.org/10.1007/s00439-019-02000-0

.

9.

Umair

M

,

Ahmad

F

,

Bilal

M

,

Ahmad

W

,

Alfadhel

M

.

Clinical genetics of polydactyly: an updated review

.

Front Genet

.

2018

;

9

:

447

.

https://doi.org/10.3389/fgene.2018.00447

.

© 2020 S. Karger AG, Basel

2020

Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.

Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.

Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

You do not currently have access to this content.

Don't already have an account? Register