{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:32:09Z","timestamp":1747193529298,"version":"3.40.5"},"reference-count":12,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"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":[[2023]]},"abstract":"<jats:p>Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on chromosome 7p14, respectively. Trichothiodystrophy type 4 is characterized by neurologic and cutaneous abnormalities. Glutaric aciduria type 3 is a rare metabolic disorder with inconsistent phenotype and elevated urinary excretion of glutaric acid. Case Presentation: Here, we report on an infant presenting with hypotonia, failure to thrive, microcephaly, dysmorphic features, brittle hair, hypertransaminasemia, and recurrent lower respiratory tract infections. Microarray analysis revealed a homozygous microdeletion involving the MPLKIP and SUGCT genes, which are located close to each other. Conclusion: Copy number variations should be considered in patients with coexisting clinical expression of different genetic alterations. To the best of our knowledge, our patient is the second case with co-occurrence of trichothiodystrophy type 4 and glutaric aciduria type 3, resulting from a contiguous gene deletion. <\/jats:p>","DOI":"10.1159\/000526393","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T22:00:34Z","timestamp":1668117634000},"page":"136-142","source":"Crossref","is-referenced-by-count":5,"title":["A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3"],"prefix":"10.1159","volume":"14","author":[{"given":"Engin","family":"Demir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neslihan","family":"Do\u011fulu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ceyda","family":"Tuna K\u0131rsa\u00e7l\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vehap","family":"Top\u00e7u","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Tuba","family":"Eminoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9442-7790","authenticated-orcid":false,"given":"Zarife","family":"Kulo\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aydan","family":"Kansu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20419"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.440"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e3182217a3a"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.02.004"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9632-0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1086\/428141"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.10.012"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0275-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.018"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208219"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-007-6501-8"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/2\/136\/3962394\/000526393.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/2\/136\/3962394\/000526393.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:15:22Z","timestamp":1745421322000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000526393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,10]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,4,3]]},"published-print":{"date-parts":[[2023,4,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000526393","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2022,11,10]]}}}