{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:48:27Z","timestamp":1760150907824,"version":"build-2065373602"},"reference-count":16,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013302","name":"King Abdullah International Medical Research Center","doi-asserted-by":"publisher","award":["RC15\/140"],"award-info":[{"award-number":["RC15\/140"]}],"id":[{"id":"10.13039\/501100013302","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Frank\u2013Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C&gt;G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS.<\/jats:p>","DOI":"10.3390\/genes13020236","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T04:49:51Z","timestamp":1643258991000},"page":"236","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank\u2013Ter Haar Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9193-0008","authenticated-orcid":false,"given":"Salam","family":"Massadeh","sequence":"first","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia"},{"name":"KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia"},{"name":"Saudi Human Genome Satellite Laboratory at King Abdulaziz Medical City, King Abdulaziz City for Science and Technology (KACST), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1801-5828","authenticated-orcid":false,"given":"Fahad","family":"Alhabshan","sequence":"additional","affiliation":[{"name":"Department of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5802-4326","authenticated-orcid":false,"given":"Hadeel N.","family":"AlSudairi","sequence":"additional","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2151-2876","authenticated-orcid":false,"given":"Sarah","family":"Alkwai","sequence":"additional","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia"},{"name":"KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi 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J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/IJG.0000000000001420","article-title":"A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma","volume":"29","author":"Ratukondla","year":"2019","journal-title":"J. Glaucoma"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/ajmg.1320130418","article-title":"Melnick-Needles syndrome: Indication for an autosomal recessive form","volume":"13","author":"Hamel","year":"1982","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","first-page":"67","article-title":"Megalocornea associ-ated with multiple skeletal anomalies: A new genetic syndrome?","volume":"21","author":"Frank","year":"1973","journal-title":"J. Genet. 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The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro","volume":"7","author":"Nagase","year":"2000","journal-title":"DNA Res."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/236\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:08:34Z","timestamp":1760134114000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,27]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["genes13020236"],"URL":"https:\/\/doi.org\/10.3390\/genes13020236","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2022,1,27]]}}}