{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T08:48:42Z","timestamp":1790412522527,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2018,11,5]],"date-time":"2018-11-05T00:00:00Z","timestamp":1541376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2018,11,5]],"date-time":"2018-11-05T00:00:00Z","timestamp":1541376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG006493"],"award-info":[{"award-number":["HG006493"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DC016295"],"award-info":[{"award-number":["R01DC016295"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA), we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Exome sequencing revealed a homozygous nonsense variant (c.478C&amp;gt;T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. We found that FAM92A is expressed in the developing mouse limb and E11.5 limb bud including the progress zone and the apical ectodermal ridge, where it strongly localizes at the cilia level, suggesting an important role in limb patterning. The identified variant leads to a loss of the FAM92A\/Chibby1 complex that is crucial for ciliogenesis and impairs the recruitment and the colocalization of FAM92A with Chibby1 at the base of the cilia. In addition, we show that Fam92a-\/- homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. In conclusion, we present a new nonsyndromic PAPA ciliopathy due to a loss-of-function variant in FAM92A. \u00a9 2018 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.3594","type":"journal-article","created":{"date-parts":[[2018,11,5]],"date-time":"2018-11-05T17:00:30Z","timestamp":1541437230000},"page":"375-386","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice"],"prefix":"10.1093","volume":"34","author":[{"given":"Isabelle","family":"Schrauwen","sequence":"first","affiliation":[{"name":"Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud PJ","family":"Giese","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology-Head and Neck SurgeryUniversity of Maryland School of MedicineBaltimoreMDUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Aziz","sequence":"additional","affiliation":[{"name":"Department of Computer Science and BioinformaticsKhushal Khan Khattak UniversityKarakPakistan"},{"name":"Department of BiochemistryFaculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David Tino","family":"Lafont","sequence":"additional","affiliation":[{"name":"Sanger InstituteWellcome Trust Genome CampusHinxtonUK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Chakchouk","sequence":"additional","affiliation":[{"name":"Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regie Lyn P","family":"Santos-Cortez","sequence":"additional","affiliation":[{"name":"Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwanghyuk","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anushree","family":"Acharya","sequence":"additional","affiliation":[{"name":"Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Falak Sher","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of BiochemistryFaculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asmat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of BiochemistryFaculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Department of Genome SciencesUniversity of WashingtonSeattleWAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Bamshad","sequence":"additional","affiliation":[{"name":"Department of PediatricsUniversity of WashingtonSeattleWAUSA"},{"name":"Department of Genome SciencesUniversity of WashingtonSeattleWAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghazanfar","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of BiotechnologyUniversity of Azad Jammu and KashmirMuzaffarabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology-Head and Neck SurgeryUniversity of Maryland School of MedicineBaltimoreMDUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of BiochemistryFaculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of BiochemistryFaculty of Biological SciencesQuaid-i-Azam UniversityIslamabadPakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology-Head and Neck SurgeryUniversity of Maryland School of 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