{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T17:27:20Z","timestamp":1767374840273,"version":"3.40.5"},"reference-count":8,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and intellectual disability. Until now, 22 patients have been reported in the literature. FGLDS2 is caused by a germline heterozygous deletion of 13q resulting in haploinsufficiency of the MIR17HG gene. Case report: In the present study, we evaluated clinical, radiological, and genetic analyses of a 10-year-old Turkish-origin girl with short stature, brachydactyly, intellectual disability, hematuria, and proteinuria. Conclusion\/Discussion: In the array-CGH analysis, a 15.7-Mb deletion, arr[hg19] 13q22q31.3(78,241,132_93,967,288)\u00d71, was detected, and this alteration was evaluated to be pathogenic. The deletion of this region covering the MIR17HG gene is a potential cause of FGLDS2. Also, at her clinical exome sequencing study, a heterozygous c.2023G&gt;A p.(Gly675Ser) variation was detected in the COL4A5 gene (NM_000495.4) that was likely pathogenic in up-to-date databases. As a result, we report on a patient who has FGLDS2 and Alport syndrome. This is the first report of a Turkish-origin FGLDS2 patient. Reporting new cases expands the range of phenotypes, plays a crucial role in understanding the FGLDS2 pathogenesis, and is important in terms of screening at-risk family members for giving appropriate genetic counseling and preimplantation genetic diagnosis opportunities. <\/jats:p>","DOI":"10.1159\/000524058","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T21:00:36Z","timestamp":1651093236000},"page":"447-453","source":"Crossref","is-referenced-by-count":3,"title":["First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature"],"prefix":"10.1159","volume":"13","author":[{"given":"\u015eenol","family":"Demir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet A.","family":"S\u00f6ylemez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5547-0024","authenticated-orcid":false,"given":"Ahmet","family":"Arman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6688-2347","authenticated-orcid":false,"given":"P\u0131nar","family":"Ata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.7.1218"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37368"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000069"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013040390"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61037"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35781"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000424812"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-013-9986-y"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/5\/447\/3899759\/000524058.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/5\/447\/3899759\/000524058.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:57:31Z","timestamp":1745423851000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000524058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000524058","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2022]]}}}