{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T12:29:57Z","timestamp":1786364997104,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T00:00:00Z","timestamp":1786147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Key Research and Development Program of Zhejiang","award":["2024C03151"],"award-info":[{"award-number":["2024C03151"]}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LQ24H070001"],"award-info":[{"award-number":["LQ24H070001"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"award":["LQ24H070001"],"award-info":[{"award-number":["LQ24H070001"]}],"id":[{"id":"https:\/\/ror.org\/04aqat463","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Special Fund for the Incubation of Young Clinical Scientist"},{"name":"The Children\u2019s Hospital of Zhejiang University School of Medicine","award":["CHZJU2022YS005"],"award-info":[{"award-number":["CHZJU2022YS005"]}]},{"award":["CHZJU2022YS005"],"award-info":[{"award-number":["CHZJU2022YS005"]}],"id":[{"id":"https:\/\/ror.org\/025fyfd20","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: CLTC-related neurodevelopmental disorder is a rare condition primarily characterized by global developmental delay (GDD) and intellectual disability (ID). To date, approximately 41 cases involving CLTC gene alterations have been reported. We present the first individual with a complete deletion of the CLTC gene. Methods: The proband is a male from a non-consanguineous family, presenting with congenital nystagmus, hypotonia, GDD, and autism spectrum disorder (ASD). Chromosomal microarray analysis and trio exome sequencing were performed. A systematic review of previously reported CLTC variant cases was conducted to delineate the phenotypic spectrum. Results: A de novo 363-kb heterozygous deletion at 17q23.1 spanning the entire CLTC gene was identified. The systematic review confirmed GDD\/ID as core features and revealed various ocular abnormalities in a subset of cases. These findings indicate that the clinical phenotype extends beyond neurodevelopment, with multi-system involvement. Conclusions: The phenotypic heterogeneity of CLTC-related disorders underscores the need for comprehensive physical examination to identify extra-neurological manifestations. Accurate diagnosis relies on integrating detailed clinical phenotyping with comprehensive genomic testing. Early, precise diagnosis facilitates multidisciplinary management, informed genetic counseling, and the establishment of long-term surveillance protocols.<\/jats:p>","DOI":"10.3390\/genes17080928","type":"journal-article","created":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T11:38:09Z","timestamp":1786361889000},"page":"928","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ocular Nystagmus as the Initial Presenting Feature in a Patient with Complete CLTC Deletion: Expanding the Genotype\u2013Phenotype Spectrum of CLTC-Related Disorder"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4267-9579","authenticated-orcid":false,"given":"Xin","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents\u2019 Health and Diseases, Hangzhou 310052, China"},{"name":"Zhejiang Key Laboratory of Neonatal Diseases, Hangzhou 310052, China"},{"name":"Binjiang Institute of Zhejiang University, Hangzhou 310053, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongrong","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents\u2019 Health and Diseases, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents\u2019 Health and Diseases, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2067-6182","authenticated-orcid":false,"given":"Huidan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents\u2019 Health and Diseases, Hangzhou 310052, China"},{"name":"Binjiang Institute of Zhejiang University, Hangzhou 310053, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil Manish","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nrm.2017.132","article-title":"Mechanisms of clathrin-mediated endocytosis","volume":"19","author":"Kaksonen","year":"2018","journal-title":"Nat. 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