{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:46:33Z","timestamp":1760060793600,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T00:00:00Z","timestamp":1758412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Higher Education Commission of Pakistan, Pediatric Genomics Discovery Program (PGDP)"},{"name":"Yale School of Medicine CT, USA"},{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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&gt;A; p.(Trp773*) in two families; a missense variant c.970G&gt;T; p.(Val324Phe) in one family; and a four amino acids in-frame deletion c.2743_2754del; p.(Gln915_Val918del) in one family. The nonsense variant segregated in families with PAP type B (PAPB), while the missense and the in-frame deletion variants segregated with PAP type A and B. Conclusions: The findings of this study expanded the clinical and genetic spectrum of PAP due to KIAA0825 variants including the first KIAA0825 variant specific to PAPB.<\/jats:p>","DOI":"10.3390\/genes16091118","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T08:37:39Z","timestamp":1758530259000},"page":"1118","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly"],"prefix":"10.3390","volume":"16","author":[{"family":"Abdullah","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7870-5655","authenticated-orcid":false,"given":"Thashi","family":"Bharadwaj","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8871-1808","authenticated-orcid":false,"given":"Saffia","family":"Javed","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hazara University Mansehra, Mansehra 21120, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1961-8105","authenticated-orcid":false,"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA"},{"name":"Department of Biosciences, COMSATS University, Islamabad 45550, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anushree","family":"Acharya","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA"},{"name":"Department of Translational Neurosciences, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weizhen","family":"Ji","sequence":"additional","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Umm-e-Kalsoom","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hazara University Mansehra, Mansehra 21120, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Biosciences, COMSATS University, Islamabad 45550, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA"},{"name":"Department of Translational Neurosciences, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3235-3460","authenticated-orcid":false,"given":"Saquib A.","family":"Lakhani","sequence":"additional","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA"},{"name":"Department of Pediatrics, Cedar-Sinai Medical Center, Los Angeles, CA 90048, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA"},{"name":"Taub Institute for Alzheimer\u2019s Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/dvdy.22609","article-title":"Polydactyly: How Many Disorders and How Many Genes? 2010 Update","volume":"240","author":"Biesecker","year":"2011","journal-title":"Dev. Dyn."},{"key":"ref_2","unstructured":"Al Amin, A.S.M., and Carter, K.R. (2025). Polydactyly(Archived). 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