{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:20:50Z","timestamp":1754396450231,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"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;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Kabuki syndrome (KS) is a rare syndrome, characterized by dysmorphic features, congenital abnormalities, and developmental problems. The primary genetic causes are variants in the &lt;i&gt;KMT2D&lt;\/i&gt; and &lt;i&gt;KDM6A&lt;\/i&gt; genes. There are few KS patients with &lt;i&gt;KDM6A&lt;\/i&gt; variants, especially in Turkey. Charcot-Marie-Tooth (CMT) disease, with various subtypes, is the most common inherited peripheral neuropathy. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We present a case of a 7-year-old girl with characteristic dysmorphic features, neonatal hypotonia, developmental delay, and short stature. Exome sequencing revealed a novel heterozygous variant in &lt;i&gt;KDM6A&lt;\/i&gt;, along with a concurrent suspected diagnosis of CMT disease with CNV analysis, not previously reported in the literature. &lt;i&gt;PMP22&lt;\/i&gt; duplication was later confirmed in the patient and symptomatic mother with MLPA test. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; We report a unique case of dual diagnosis with a novel de novo heterozygous variant in &lt;i&gt;KDM6A &lt;\/i&gt;and &lt;i&gt;PMP22 &lt;\/i&gt;duplication in the same patient, highlighting the additive use of exome sequencing for CNVs and, moreover, unraveling the complexity of rare diseases, particularly when multiple conditions coexist. <\/jats:p>","DOI":"10.1159\/000540207","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T21:04:10Z","timestamp":1722287050000},"page":"1-6","source":"Crossref","is-referenced-by-count":1,"title":["Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant"],"prefix":"10.1159","author":[{"given":"Ahmet","family":"Kablan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esma","family":"Erturkmen Aru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040468"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy241"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.23838\/pfm.2018.00163"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020484"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000536162"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0146040"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2020-235988"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1211254"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2022.342"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000493"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37478"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000531408"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000438812"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516767"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2017.01.001"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-3680"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/s13643-017-0535-2"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000540207\/4258723\/000540207.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000540207\/4258723\/000540207.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:29:30Z","timestamp":1745422170000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000540207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,29]]},"references-count":19,"URL":"https:\/\/doi.org\/10.1159\/000540207","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2024,7,29]]}}}