{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:21:50Z","timestamp":1772252510375,"version":"3.50.1"},"reference-count":12,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis. ASD was first noted in the patient at the age of 2.5 years. Later, he developed epileptic seizures and important growth retardation. Prior to the hospitalization, chromosomal aberrations, Fragile X syndrome, and aminoacidopathies\/aminoacidurias associated with ASD were excluded. Whole-genome sequencing (WGS) was prescribed to the patient at 23 years old. Results: The patient had a heterozygous carrier of \u201cde novo\u201d variant c.662C &gt; T (p.S221L) in exon 4 of the DEAF1 gene. c.662C &gt; T had not been previously described in genomic databases. According to the ACMG criteria, this missense variant was considered to be pathogenic. VSVS was diagnosed in the patient. Conclusions: The phenotype of the patient is very similar to the data presented in the world literature. However, growth retardation and cachexia, which have not been described previously in the articles, are of interest.<\/jats:p>","DOI":"10.3390\/diagnostics12081887","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T21:52:48Z","timestamp":1659649968000},"page":"1887","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Natalia","family":"Bodunova","sequence":"first","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9124-294X","authenticated-orcid":false,"given":"Maria","family":"Vorontsova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Endocrinology, 117292 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Igor","family":"Khatkov","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Baranova","sequence":"additional","affiliation":[{"name":"LLC Evogen, 115191 Moscow, Russia"},{"name":"Russian Medical Academy of Continuous Professional Education, 125445 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Bykova","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniil","family":"Degterev","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Litvinova","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"},{"name":"Department of Medical Genetics, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119048 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8888-8395","authenticated-orcid":false,"given":"Airat","family":"Bilyalov","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"},{"name":"Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Makarova","sequence":"additional","affiliation":[{"name":"LLC Evogen, 115191 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2534-8463","authenticated-orcid":false,"given":"Olesya","family":"Sagaydak","sequence":"additional","affiliation":[{"name":"LLC Evogen, 115191 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia","family":"Danishevich","sequence":"additional","affiliation":[{"name":"The Loginov Moscow Clinical Scientific Center, 111123 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1159\/000158653","article-title":"X Pentasomy in an Intracytoplasmic Sperm Injection Pregnancy Detected by Nuchal Translucency Testing","volume":"24","author":"Cheng","year":"2008","journal-title":"Fetal Diagn. 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Mutat."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/8\/1887\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:03:55Z","timestamp":1760141035000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/8\/1887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,4]]},"references-count":12,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["diagnostics12081887"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12081887","relation":{"has-preprint":[{"id-type":"doi","id":"10.20944\/preprints202207.0003.v1","asserted-by":"object"}]},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,4]]}}}