University of Oulu

Anna Tuiskula, Elisa Rahikkala, Andreina Kero, Maria K. Haanpää, Kristiina Avela, Jansen de Vries syndrome: Report of four new patients and review of the literature, European Journal of Medical Genetics, Volume 66, Issue 8, 2023, 104807, ISSN 1769-7212,

Jansen de Vries syndrome : report of four new patients and review of the literature

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Author: Tuiskula, Anna1; Rahikkala, Elisa2,3; Kero, Andreina4;
Organizations: 1Department of Pediatrics, Children's Hospital, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland
2PEDEGO Research Unit, University of Oulu, Oulu, Finland
3Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland
4Department of Clinical Genetics, Turku University Hospital, Turku, Finland
5Genomics Department, Turku University Hospital, Turku, Finland
6Department of Clinical Genetics, Helsinki University Hospital (HUH), Helsinki, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.3 MB)
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Language: English
Published: Elsevier, 2023
Publish Date: 2023-08-11


Jansen de Vries syndrome (JDVS, OMIM: 617450) is a rare neurodevelopmental disorder associated with hypotonia, behavioral features, high threshold to pain, short stature, ophthalmological abnormalities, dysmorphism and occasionally a structural cardiac condition. It is caused by truncating variants of the last and penultimate exons of PPM1D. So far, 21 patients with JVDS have been reported in the literature.

Here, we describe four novel cases of JVDS and review the current literature. Notably, our patients 1, 3 and 4 do not have intellectual disability albeit they have significant developmental difficulties. Thus, the phenotype may span from a classic intellectual disability syndrome to a milder neurodevelopmental disorder. Interestingly, two of our patients have received successful growth hormone treatment. Considering the phenotype of all the known JDVS patients, a cardiological consultation is recommended, as at least 7/25 patients showed a structural cardiac defect. Episodic fever and vomiting may associate with hypoglycemia and may even mimic a metabolic disorder. We also report the first JDVS patient with a mosaic gene defect and a mild neurodevelopmental phenotype.

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Series: European journal of medical genetics
ISSN: 1769-7212
ISSN-E: 1878-0849
ISSN-L: 1769-7212
Volume: 66
Issue: 8
Article number: 104807
DOI: 10.1016/j.ejmg.2023.104807
Type of Publication: A1 Journal article – refereed
Field of Science: 3111 Biomedicine
Funding: None of the authors have conflict of interest to disclose. This study was supported by the Academy of Finland (decision number 338446) to ER.
Academy of Finland Grant Number: 338446
Detailed Information: 338446 (Academy of Finland Funding decision)
Copyright information: © 2023 The Authors. Published by Elsevier Masson SAS. This is an open access article under the CC BY license (