ArticleHuman genetics2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- An INSR-BECN1-KIAA0825 complex prevents hepatocytic insulin receptor secretion via extracellular vesicles against monogenic diabetes.bioRxiv : the preprint server for biology · 2026Article
- NovelGenes · 2025Article
- Article
- A dominant missense variant within LMBR1 related to equine polydactyly.Communications biology · 2024Article
- Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Journal of orthopaedic surgery and research · 2024Article
- Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.European journal of human genetics : EJHG · 2023Article
- Identification ofGenes · 2023Article
- Genetics of congenital anomalies of the hand.World journal of orthopedics · 2022Article
- Article
- A Frameshift Variant inMolecular syndromology · 2021Article
- Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.Computational and structural biotechnology journal · 2021Article
- A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly.Frontiers in genetics · 2021Article
- Deleterious Variants inInternational journal of molecular sciences · 2019Article
Corrections and comments
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Authors and funding
25 authors at 10 institutions in 3 countries.
Funding
Abstract
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.
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