Bodunova, N.; Vorontsova, M.; Khatkov, I.; Baranova, E.; Bykova, S.; Degterev, D.; Litvinova, M.; Bilyalov, A.; Makarova, M.; Sagaydak, O.; Danishevich, A. A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome. Diagnostics2022, 12, 1887.
Bodunova, N.; Vorontsova, M.; Khatkov, I.; Baranova, E.; Bykova, S.; Degterev, D.; Litvinova, M.; Bilyalov, A.; Makarova, M.; Sagaydak, O.; Danishevich, A. A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome. Diagnostics 2022, 12, 1887.
Bodunova, N.; Vorontsova, M.; Khatkov, I.; Baranova, E.; Bykova, S.; Degterev, D.; Litvinova, M.; Bilyalov, A.; Makarova, M.; Sagaydak, O.; Danishevich, A. A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome. Diagnostics2022, 12, 1887.
Bodunova, N.; Vorontsova, M.; Khatkov, I.; Baranova, E.; Bykova, S.; Degterev, D.; Litvinova, M.; Bilyalov, A.; Makarova, M.; Sagaydak, O.; Danishevich, A. A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome. Diagnostics 2022, 12, 1887.
Abstract
Introduction: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (VSVS;OMIM#615828) is an extremely 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 world literature. Materials and Methods: We describe a 23y.o. 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 2.5y.o. Later he developed epileptic seizers and prominent growth retardation. Prior to the hospitalization he was excluded chromosomal aberrations, Martin-Bell syndrome, aminoacidopathies/aminoacidurias associated with ASD. Whole genome sequencing was prescribed to the patient at 23y.o. Results: The patient appeared to be a heterozygous carrier of “de novo” variant c.662C>T (p.S221L) in ex 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, not previously described in the articles, are of interest.
Keywords
VULTO-VAN syndrome; DEAF1; VSVS
Subject
Medicine and Pharmacology, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received:
17 July 2022
Commenter:
Lesley Little
The commenter has declared there is no conflict of interests.
Comment:
I find this article enlightening. My Granson has had genetic testing and been diagnosed with VSVS. I would really like to know more. My daughter in law is not keen to talk to us about it and do not want to add more pressure. I am very medically minded as I've had health challenges of my own so would be keen to share information if it would be of any help from a research perspective. However, I'm keen to know the prognosis of such individuals. They have an older daughter whom we are told does not have the gene. As I am avid Family Tree researcher I have found out that my daughter in laws paternal aunt has a child with what sounds like VSVS but I cannot talk to her about this without her feeling I may be blaming her. Which of course I am not I just have questions which I am unable to get answers for. So I'd really appreciate any info or further information you may have in relation to this topic.
Kind regards
Lesley Little
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Commenter: Lesley Little
The commenter has declared there is no conflict of interests.
Kind regards
Lesley Little