{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T04:44:37Z","timestamp":1778042677942,"version":"3.51.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"6","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: Pathogenic variants in the SLC26A2\/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of SLC26A2\/DTDST-related disorders. Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS). We reviewed data from the literature regarding phenotype, zygosity, and genotype in parallel. Results: The local cohort enrolled 12 patients, including one with a Desbuquois-like phenotype. All but one showed biallelic mutations, however, only one allele mutated in a fetus presenting ACG1B was identified. The literature review identified 42 articles and the analyses of genotype and zygosity included the 12 local patients. Discussion: The R279W variant was the most prevalent among the local patients. It was in homozygosity (hmz) in 2 patients with rMED and in compound heterozygosity (chtz) in 9 patients. The genotype and zygosity review of all patients led to the following conclusions: DTD is the most common phenotype in Finland due to a Finnish mutation (c.727\u20131G&gt;C). Outside of Finland, rMED is the most prevalent phenotype, usually associated with R279W in hmz. In contrast, DTD\u2019s genotype is usually in chtz. Despite a large number of variants (38), just 8 are recurrent (R279W, C653S, c.\u221226+2T&gt;C, R178*, K575Sfs*10, V340del, G663R, T512K). The last 3 in hmz lead to lethal phenotypes. The Finnish mutation is found only in chtz outside of Finland, being associated with all 4 classical phenotypes. The p.R178* and p.K575Sfs*10 variants should be viewed as lethal mutations since both were mainly described with lethal phenotypes and were never reported in hmz. The existence of 9 patients with only one mutated allele suggests that other mutations in the other allele of these patients still need to be unveiled. <\/jats:p>","DOI":"10.1159\/000525020","type":"journal-article","created":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T07:11:07Z","timestamp":1655277067000},"page":"485-495","source":"Crossref","is-referenced-by-count":9,"title":["SLC26A2\/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation"],"prefix":"10.1159","volume":"13","author":[{"given":"Cynthia","family":"Silveira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9114-9481","authenticated-orcid":false,"given":"Karina","family":"da Costa Silveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6680-793X","authenticated-orcid":false,"given":"Maria D.","family":"Lacarrubba-Flores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maur\u00edcio T.","family":"Sakata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia N.","family":"Carbognani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Llerena Jr.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina A.","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6617-4730","authenticated-orcid":false,"given":"Denise P.","family":"Cavalcanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,6,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33707"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33736"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1485"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh242"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.007"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003-9406.2020.07.016"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32543"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2017.09.016"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00586-002-0413-y"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.31.18456"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1997.t01-1-00741.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36057"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/6\/485\/3915612\/000525020.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/13\/6\/485\/3915612\/000525020.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:59:26Z","timestamp":1745420366000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,1,5]]},"published-print":{"date-parts":[[2023,1,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000525020","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.20071145","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}