{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T07:04:31Z","timestamp":1785135871619,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Neurobiology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Xia\u2013Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by heterozygous variants in the\n                    <jats:italic>AHDC1<\/jats:italic>\n                    gene. While the core phenotype includes developmental delay, hypotonia, and expressive language impairment, the syndrome displays considerable clinical and genetic heterogeneity. Data from non\u2010European populations remain scarce. We report the clinical and molecular findings of five unrelated Turkish patients with XGS diagnosed via whole\u2010exome sequencing (WES). This is a multicenter study, and clinical data were collected from participating centers using standardized forms. All patients carried heterozygous, de novo\n                    <jats:italic>AHDC1<\/jats:italic>\n                    variants (three frameshift, two nonsense), all of which were classified as pathogenic or likely pathogenic. Three of these, p.(Ala1432Profs13), p.(Val900Glyfs2), and p.(Val704Profs*26), are novel and predicted to cause protein truncation. Nonsense mutations are p.(Arg108*) and p.(Trp638*), which were previously reported as disease\u2010causing. One patient had dual diagnoses with\n                    <jats:italic>AHDC1<\/jats:italic>\n                    and\n                    <jats:italic>CDK13<\/jats:italic>\n                    variants, explaining ocular and cardiac anomalies, leading to a particularly severe neurodevelopmental phenotype. This is the largest study reported to date in Turkey on XGS, a rare genetic disorder, further expanding the disease's genotypic and phenotypic spectrum. Recognition of dual diagnoses in a single patient underscores the value of WES in detecting complex genotypes and avoiding misattributed genotype\u2013phenotype associations. As a recently described syndrome, careful evaluation of patients with XGS for atypical phenotypes may provide important contributions to the clinical presentation described in the literature.\n                  <\/jats:p>","DOI":"10.1002\/dneu.70036","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T06:39:16Z","timestamp":1778827156000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Neurodevelopmental Spectrum of Xia\u2013Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5873-7433","authenticated-orcid":false,"given":"Irem","family":"Kalay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Umraniye Training and Research Hospital University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kadri","family":"Karaer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Pamukkale University School of Medicine  Denizli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4001-0505","authenticated-orcid":false,"given":"Sumeyra","family":"Oguz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Zeynep K\u00e2mil Women and Children's Diseases Health Training and Research Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0582-8881","authenticated-orcid":false,"given":"Enise Avci","family":"Durmusalioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Sanl\u0131urfa Training and Research Hospital  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvin Kazanc\u0131o\u011flu","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ad\u0131yaman Research and Training Hospital  Ad\u0131yaman Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8830-919X","authenticated-orcid":false,"given":"Fayize Maden","family":"Bedel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Erzurum City Hospital  Erzurum Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5348-557X","authenticated-orcid":false,"given":"Lamiya","family":"Mardan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Haseki Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-3872","authenticated-orcid":false,"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Ege University School of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000530410"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000538918"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010025\u201002765\u20107"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24461"},{"key":"e_1_2_10_6_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Chander 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