Novel <i>KIAA0825</i> Variants Underlie Nonsyndromic Postaxial Polydactyly.

ABSTRACT:

Background

Extra digits on the hands and/or feet are a frequent condition known as polydactyly. Twelve nonsyndromic polydactyly genes have been identified, including KIAA0825.

Methods

Four consanguineous Pakistani families that segregate nonsyndromic postaxial polydactyly (PAP) with an autosomal recessive mode of inheritance were clinically and genetically evaluated. Exome sequencing or genotyping of polymorphic microsatellite markers followed by Sanger sequencing were used to identify the variants underlying the PAP etiology.

Results

Three novel KIAA0825 variants were identified that segregate with PAP: a nonsense variant c.2319G>A; p.(Trp773*) in two families; a missense variant c.970G>T; p.(Val324Phe) in one family; and a four amino acids in-frame del

SUBMITTER: Abdullah 

PROVIDER: S-EPMC12469399 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature