Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, Naveed Wasif, Regie Lyn P. Santos-Cortez, Saadullah Khan, Abdul Aziz, Kwanghyuk Lee, Julien Couthouis, Denise Horn, Bjørt K. Kragesteen, Malte Spielmann, Holger Thiele, Deborah A. Nickerson, Michael J. Bamshad, Aaron D. GitlerJamil Ahmad, Muhammad Ansar, Guntram Borck, Wasim Ahmad, Suzanne M. Leal*

*Corresponding author for this work
6 Citations (Scopus)


Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development, specifically, the anterior-posterior specification of the limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A, GLI1, GLI3, IQCE and ZNF141. In this study, two Pakistani multiplex consanguineous families with autosomal recessive nonsyndromic PAP were clinically and molecularly evaluated. From both pedigrees, a DNA sample from an affected member underwent exome sequencing. In each family, we identified a segregating frameshift (c.591dupA [p.(Q198Tfs*21)]) and nonsense variant (c.2173A > T [p.(K725*)]) in KIAA0825 (also known as C5orf36). Although KIAA0825 encodes a protein of unknown function, it has been demonstrated that its murine ortholog is expressed during limb development. Our data contribute to the establishment of a catalog of genes important in limb patterning, which can aid in diagnosis and obtaining a better understanding of the biology of polydactyly.

Original languageEnglish
JournalHuman Genetics
Issue number6
Pages (from-to)593-600
Number of pages8
Publication statusPublished - 01.06.2019


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