{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:10Z","timestamp":1787894350538,"version":"build-2784847793"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:00:00Z","timestamp":1768262400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:00:00Z","timestamp":1768262400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"ABSTRACT<\/jats:title>\n \n Pathogenic variants in\n NCKAP1<\/jats:italic>\n , a gene encoding a core component of the WAVE regulatory complex (WRC), have recently been implicated in neurodevelopmental disorders (NDDs), but the clinical spectrum remains incompletely characterized. We describe a father and daughter carrying a novel heterozygous\n NCKAP1<\/jats:italic>\n splice\u2010site variant (c.2021+1G>A), both presenting with developmental delay, autistic features, epilepsy, and shared craniofacial dysmorphisms. Although familial cases have been previously reported, this is the first to present thorough phenotypic documentation, including longitudinal neurodevelopmental and neuroimaging follow\u2010up, dermatologic involvement, and dysmorphic evaluation in both the parent and the child. Notably, both individuals showed nail dystrophy and inflammatory skin lesions, expanding the phenotypic range of\n NCKAP1<\/jats:italic>\n \u2010related disorders beyond the nervous system. Comparative analysis revealed significant overlap with reported features of\n RAC1<\/jats:italic>\n ,\n CYFIP2<\/jats:italic>\n , and\n WASF1<\/jats:italic>\n \u2010related syndromes, genes that also encode components of the WRC, further supporting a shared pathophysiological mechanism involving cytoskeletal dysregulation. Expression data from GTEx and HPA confirm that\n NCKAP1<\/jats:italic>\n is not only neuronally expressed but also found in epithelial tissues, providing biological plausibility for the dermatologic manifestations. This report contributes new clinical insights into\n NCKAP1<\/jats:italic>\n \u2010associated NDDs and emphasizes the importance of detailed phenotyping in rare familial cases to refine gene\u2010disease associations.\n <\/jats:p>","DOI":"10.1002\/ajmga.70053","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T07:47:55Z","timestamp":1768376875000},"page":"1145-1150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial Presentation of a Rare\n NCKAP1<\/i>\n Splice\u2010Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8117-6408","authenticated-orcid":false,"given":"Ozge Beyza","family":"G\u00fcndo\u011fdu \u00d6\u011f\u00fctl\u00fc","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Erzurum City Hospital Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berrin","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Radiology Erzurum City Hospital Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0178-2871","authenticated-orcid":false,"given":"Zeynep","family":"Utlu","sequence":"additional","affiliation":[{"name":"Department of Skin and Venereal Diseases Atat\u00fcrk University Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve","family":"Karabak","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry Erzurum City Hospital Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Erzurum City Hospital Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-5720","authenticated-orcid":false,"given":"Oguzhan","family":"Yaral\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Erzurum City Hospital Erzurum Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1843-2"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2024.111333"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac049"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01011-x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201807216"},{"key":"e_1_2_10_8_1","volume-title":"ACGS Best 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