{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T02:59:13Z","timestamp":1768877953847,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100013302","name":"King Abdullah International Medical Research Center","doi-asserted-by":"publisher","award":["NRC22R\u2010661\u201012"],"award-info":[{"award-number":["NRC22R\u2010661\u201012"]}],"id":[{"id":"10.13039\/501100013302","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Polydactyly is a very common digit anomaly, having extra digits in hands and\/or toes. Non\u2010syndromic polydactyly in both autosomal dominant and autosomal recessive forms are caused by disease\u2010causing variants in several genes, including <jats:italic>GLI1<\/jats:italic>, <jats:italic>GLI3<\/jats:italic>, <jats:italic>ZNF141<\/jats:italic>, <jats:italic>FAM92A<\/jats:italic>, <jats:italic>IQCE<\/jats:italic>, <jats:italic>KIAA0825<\/jats:italic>, <jats:italic>MIPOL1<\/jats:italic>, <jats:italic>STKLD1<\/jats:italic>, <jats:italic>PITX1<\/jats:italic>, and <jats:italic>DACH1<\/jats:italic>. Whole exome sequencing (WES) followed by bi\u2010directional Sanger sequencing was performed for the single affected individual (II\u20101) of the family to reveal the disease causative variant\/gene. 3D protein modeling and structural molecular docking was performed to determine the effect of the identified mutation on the overall protein structure. WES revealed a novel biallelic missense variant (c.472G&gt;C; p.Ala158Pro) in exon 6 of the <jats:italic>FAM92A<\/jats:italic> gene. The identified variant segregated perfectly with the disease phenotype using Sanger sequencing. Furthermore, Insilco analysis revealed that the variant significantly changes the protein secondary structure, and substantially impact the stability of FAM92A. We report the second <jats:italic>FAM92A<\/jats:italic> disease\u2010causing mutation associated with recessive non\u2010syndromic postaxial polydactyly. The data further confirms the contribution of <jats:italic>FAM92A<\/jats:italic> in limb development and patterning.<\/jats:p>","DOI":"10.1111\/cge.14572","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T08:38:29Z","timestamp":1718008709000},"page":"488-493","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel homozygous <i>FAM92A<\/i> gene (<i>CIBAR1<\/i>) variant further confirms its association with non\u2010syndromic postaxial polydactyly type <scp>A9<\/scp> (<scp>PAPA9<\/scp>)"],"prefix":"10.1111","volume":"106","author":[{"given":"Muhammad","family":"Umair","sequence":"first","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaheer","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS Institute of Information Technology  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilal","family":"Shaker","sequence":"additional","affiliation":[{"name":"Global AI Drug Discovery Center, College of Pharmacy and Graduate School of Pharmaceutical Sciences Ewha Womans University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Bilal","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Aga Khan University  Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulkareem","family":"Al Abdulrahman","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS Institute of Information Technology  Islamabad Pakistan"},{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Jawad Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS Institute of Information Technology  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"},{"name":"Genetics and Precision Medicine Department (GPM) King Abdullah Specialized Children's Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22609"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00447"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.83"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00008"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3594"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13547"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx335"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14224"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13495"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12264"},{"key":"e_1_2_12_12_1","first-page":"482","article-title":"Sequence variants in four genes underlying Bardet\u2010Biedl syndrome in consanguineous families","volume":"23","author":"Ullah A","year":"2017","journal-title":"Mol Vis"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molliq.2020.113612"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1092586"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00160-16"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.145074"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T09:58:07Z","timestamp":1725271087000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,10]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1111\/cge.14572"],"URL":"https:\/\/doi.org\/10.1111\/cge.14572","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,10]]},"assertion":[{"value":"2024-03-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}