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A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome

Abstract

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 “de novo” variant c.662C > T (p.S221L) in exon 4 of the DEAF1 gene. c.662C > 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.

Citing Articles

Vulto-van Silfhout-de Vries syndrome caused by variants of gene: a case report and literature review.

Zhu H, Zhu S, Jiang Q, Pang Y, Huang Y, Chen Y Front Neurol. 2023; 14:1251467.

PMID: 38073621 PMC: 10704354. DOI: 10.3389/fneur.2023.1251467.

References
1.
Zhang X, Shu L, Zhao X, Li X . Autism spectrum disorders: autistic phenotypes and complicated mechanisms. World J Pediatr. 2019; 15(1):17-25. DOI: 10.1007/s12519-018-0210-2. View

2.
Vissers L, de Ligt J, Gilissen C, Janssen I, Steehouwer M, De Vries P . A de novo paradigm for mental retardation. Nat Genet. 2010; 42(12):1109-12. DOI: 10.1038/ng.712. View

3.
Chen L, Jensik P, Alaimo J, Walkiewicz M, Berger S, Roeder E . Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017; 38(12):1774-1785. PMC: 5679464. DOI: 10.1002/humu.23339. View

4.
Cheng P, Chueh H, Shaw S, Hsu J, Hsieh T, Soong Y . X pentasomy in an intracytoplasmic sperm injection pregnancy detected by nuchal translucency testing. Fetal Diagn Ther. 2008; 24(3):299-303. DOI: 10.1159/000158653. View

5.
Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S . Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. 2015; 52(9):607-11. DOI: 10.1136/jmedgenet-2015-103083. View