{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T15:51:58Z","timestamp":1776268318204,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T00:00:00Z","timestamp":1738886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Nabais S\u00e1\u2010De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by <jats:italic>SPOP<\/jats:italic> mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features. In this article, we report a new case of NSDVS involving a novel pathogenic variant of the <jats:italic>SPOP<\/jats:italic> gene. We describe the patient's motor, cognitive, adaptive, behavioral, and neurovisual features, as well as her developmental trajectory. The girl, followed\u2010up from the first months of life to 11\u2009years of age, presented with a de novo heterozygous missense in Exon 5 of the SPOP gene (NM_001007228.2:c.361C&gt;T, p.Arg121Trp) and, thus, classified as NSDVS Type 1. Along with a global developmental delay, she showed microcephaly, dysmorphic features (such as narrow forehead, highly arched eyebrows, and blepharophimosis), moderate intellectual disability, adaptive difficulties, language disorder, and several neurovisual signs and symptoms (such as refractive errors, strabismus, nystagmus, altered oculomotor functions and deficits of visual acuity, and contrast sensitivity). These findings suggest a predominant involvement of the central nervous system in NSDVS and expand the phenotypic spectrum of this syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.64007","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T12:33:26Z","timestamp":1738931606000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Insights Into Nabais S\u00e1\u2010De Vries Syndrome due to a Novel <scp>SPOP<\/scp> Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3347-7548","authenticated-orcid":false,"given":"Jessica","family":"Galli","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"},{"name":"Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Loi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Zanardini","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Baldoni","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Novara","sequence":"additional","affiliation":[{"name":"Next Lab Italy, Laboratorio di Genetica Molecolare  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Panigada","sequence":"additional","affiliation":[{"name":"Next Lab Italy, Laboratorio di Genetica Molecolare  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ciccone","sequence":"additional","affiliation":[{"name":"Next Lab Italy, Laboratorio di Genetica Molecolare  Pavia Italy"},{"name":"Dipartimento di Medicina Molecolare Universit\u00e0 di Pavia  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rosa","family":"Cutr\u00ec","sequence":"additional","affiliation":[{"name":"Paediatric Clinic, ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Bertoletti","sequence":"additional","affiliation":[{"name":"Department of Neurological and Vision Sciences ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit Section of Pediatric Neuroradiology, ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Fazzi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"},{"name":"Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Manual for the ASEBA School\u2010Age Forms & Profiles: Child Behavior Checklist for Ages 6\u201318, Teacher's Report Form, Youth Self\u2010Report: An Integrated System of Multi\u2010Informant Assessment","author":"Achenbach T. 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