{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T20:25:23Z","timestamp":1758313523483,"version":"3.44.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"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"],"abstract":"<jats:p>&lt;p&gt;Introduction: In consanguineous marriages, different homozygous variants in a single gene may occur in the same family. This may lead to blended phenotypes. This study presents a family in which different rare mechanisms come together as a result of consanguineous marriage. Primary coenzyme Q10 deficiency is a very rare disease that occurs due to homozygous or compound heterozygous variants in the COQ4 gene. Case Presentation: A 2-year-old proband with a blended phenotype with sex development disorder and coenzyme Q (CoQ) 10 deficiency has psychomotor retardation, dysmorphic findings, hypotonia, micropenis, and bilateral cryptorchidism. The patient\u2019s cytogenetic analysis results were compatible with SRY-positive 46,XX sex reversal disease. In the subsequent whole-exome analysis, a c.437T&gt;G (Phe146Cys) missense homozygous probable pathogenic variant was detected in the 5th exon of the COQ4 gene (NM_016035) that explains other clinical findings. The brother of the index was previously deceased due to hydrocephalus and had a nonsense homozygous variant c.1051C&gt;T p.(Arg351*) in the 7th exon of the AHI1 gene (NM_001134830). Discussion: Alterations in exons 5\u20137 of the COQ4 gene manifest early in life, resulting in neonatal fatality and a more pronounced clinical trajectory. Conversely, mutations occurring in exons 1\u20134 emerge later and exhibit a less severe clinical progression. Interestingly, the c.437T&gt;G variant within exon 5 of the COQ4 gene induces comparatively milder clinical symptoms, deviating from the documented cases in the literature. To our knowledge, there is no other reported case in the literature with a blended phenotype of a sexual development anomaly and primary CoQ10 deficiency. &lt;\/p&gt;<\/jats:p>","DOI":"10.1159\/000541717","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T13:01:20Z","timestamp":1730206880000},"page":"271-277","source":"Crossref","is-referenced-by-count":0,"title":["Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene"],"prefix":"10.1159","volume":"16","author":[{"given":"Rumeysa","family":"Atasay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla Nur","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayten","family":"Gulec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Canpolat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huseyin","family":"Per","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Kardas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilge","family":"Ozsait Selcuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-0176","authenticated-orcid":false,"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aslihan","family":"Kiraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1964.tb04630.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/andr.13279"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2005.18.8.739"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.023"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/antiox12071469"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2008.10.006"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.09.002"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-019-01011-x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103140"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-022-00330-z"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0563-y"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.05.001"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107729"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000516654"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.776807"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61983"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10509-6"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000523877"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000541717\/4294369\/000541717.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000541717","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T16:04:56Z","timestamp":1758297896000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000541717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,6,4]]},"published-print":{"date-parts":[[2025,5,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000541717","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2024,10,29]]}}}