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Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Vettiatil D, Soorajkumar A, Dubin RA, Pedrosa E, Schornagel A, Lambert JS, Costa IP, McDonald J, Swagemakers SMA, van der Spek PJ, Frankovich J, Cunningham JL, Lachman HM. Vettiatil D, et al. medRxiv [Preprint]. 2025 Aug 27:2025.08.27.25333852. doi: 10.1101/2025.08.27.25333852. medRxiv. 2025. Update in: Dev Neurosci. 2026 Feb 9:1-19. doi: 10.1159/000550301. PMID: 40894167 Free PMC article. Updated. Preprint.
INTRODUCTION: We recently identified variants in 10 genes that are members of either the p53 pathway or Fanconi Anemia Complex (FAC), regulators of the DNA repair (DNA damage response; DDR) in 17 cases with Pediatric Acute-Onset Neuropsychiatry Syndrome (PANS) or regressio …
INTRODUCTION: We recently identified variants in 10 genes that are members of either the p53 pathway or Fanconi Anemia Complex (FAC), regula …
Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.
Merida De la Torre FJ, Porta Pelayo J, Ortiz-Martín I. Merida De la Torre FJ, et al. Front Genet. 2025 Jun 24;16:1601752. doi: 10.3389/fgene.2025.1601752. eCollection 2025. Front Genet. 2025. PMID: 40630121 Free PMC article.
INTRODUCTION: Jansen-de Vries syndrome (JDVS) is a rare autosomal dominant neurodevelopmental disorder caused by truncating variants in exons 5 and 6 of the PPM1D gene. ...
INTRODUCTION: Jansen-de Vries syndrome (JDVS) is a rare autosomal dominant neurodevelopmental disorder caused by …
Landscape of Cyclic Vomiting Syndrome: From Bedside to Bench, Past to Present.
Li BUK. Li BUK. Neurogastroenterol Motil. 2025 Mar;37(3):e14990. doi: 10.1111/nmo.14990. Epub 2025 Jan 10. Neurogastroenterol Motil. 2025. PMID: 39789960 Free PMC article. Review.
Investigations into mechanisms of cyclic(al) vomiting syndrome (CVS) began at the bedside more than a century ago. The modern era started with the formation of the Cyclic Vomiting Syndrome Association in 1993 that helped initiate robust efforts in education, advocac …
Investigations into mechanisms of cyclic(al) vomiting syndrome (CVS) began at the bedside more than a century ago. The modern era sta …
Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.
Pizzol A, Adams KA, de Vries BBA, Curry CJ, Calvo PL. Pizzol A, et al. Am J Med Genet A. 2025 Mar;197(3):e63918. doi: 10.1002/ajmg.a.63918. Epub 2024 Nov 4. Am J Med Genet A. 2025. PMID: 39494522
Jansen-de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) abnormalities, including recurrent vomiting. This study aimed to understand the frequency and severity of GI sym …
Jansen-de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disabilit …
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL, Frankovich J, Dubin RA, Pedrosa E, Baykara RN, Schlenk NC, Maqbool SB, Dolstra H, Marino J, Edinger J, Shea JM, Laje G, Swagemakers SMA, Sinnadurai S, Zhang ZD, Lin JR, van der Spek PJ, Lachman HM, Lachman HM. Cunningham JL, et al. Dev Neurosci. 2025;47(4):231-250. doi: 10.1159/000541908. Epub 2024 Oct 11. Dev Neurosci. 2025. PMID: 39396515 Free PMC article.
We previously identified 11 genes in pediatric acute-onset neuropsychiatric syndrome (PANS), in which two classes of genes related to either synaptic function or the immune system were found. ...
We previously identified 11 genes in pediatric acute-onset neuropsychiatric syndrome (PANS), in which two classes of genes related to …
Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome.
Aguilan JT, Pedrosa E, Dolstra H, Baykara RN, Barnes J, Zhang J, Sidoli S, Lachman HM. Aguilan JT, et al. bioRxiv [Preprint]. 2023 Jul 8:2023.07.08.548192. doi: 10.1101/2023.07.08.548192. bioRxiv. 2023. PMID: 37461463 Free PMC article. Preprint.
BACKGROUND: Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-function (GOF) truncating mutations in PPM1D exons 5 or 6. ...
BACKGROUND: Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-functi …
Jansen de Vries syndrome: Report of four new patients and review of the literature.
Tuiskula A, Rahikkala E, Kero A, Haanpää MK, Avela K. Tuiskula A, et al. Eur J Med Genet. 2023 Aug;66(8):104807. doi: 10.1016/j.ejmg.2023.104807. Epub 2023 Jun 28. Eur J Med Genet. 2023. PMID: 37385405 Free article. Review.
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 …
Jansen de Vries syndrome (JDVS, OMIM: 617450) is a rare neurodevelopmental disorder associated with hypotonia, b …
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572 Free PMC article.
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. ...In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and …
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 a …
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review.
Tsai MM, Lee NC, Chien YH, Hwu WL, Tung YC. Tsai MM, et al. J Formos Med Assoc. 2022 Apr;121(4):856-860. doi: 10.1016/j.jfma.2021.12.022. Epub 2022 Jan 10. J Formos Med Assoc. 2022. PMID: 35016835 Free article. Review.
Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. ...
Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vr …
Jansen-de Vries syndrome. First case diagnosed in Spain.
Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Alba Menéndez A, Fernández-Jaén A. Martín Fernández-Mayoralas D, et al. Neurologia (Engl Ed). 2021 May;36(4):330-332. doi: 10.1016/j.nrl.2020.06.006. Epub 2020 Sep 9. Neurologia (Engl Ed). 2021. PMID: 32919790 Free article. English, Spanish. No abstract available.
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