A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly-Reference-Cited by-同舟云学术

A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly

Published:2020-12-03 Issue: Volume: Page:1-5
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Bilal Muhammad,Ahmad Wasim^ORCID

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.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

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1. Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly;Genes;2023-04-05

2. Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A;Genes;2022-07-11