Draft:Jansen deVries syndrome

Submission declined on 18 August 2024 by Theroadislong (talk).

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Declined by Theroadislong 3 months ago. Last edited by DEF2051 3 months ago. Reviewer: Inform author.

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Submission declined on 12 August 2024 by Jdcomix (talk).

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Declined by Jdcomix 3 months ago.

Comment: adding more and more content without sources isn't helpful Theroadislong (talk) 17:11, 18 August 2024 (UTC)

Comment: This draft needs more content describing the syndrome (see other syndrome articles as models) and references that are about the condition, not just sci journal articles. Case study sci journal articles (refs 4-6) do not contribute to confirming Wikipedia notability and should be deleted. David notMD (talk) 05:29, 18 August 2024 (UTC)

Comment: Unless there is significant coverage in reliable independent sources, we cannot have an article about this topic. Theroadislong (talk) 13:37, 17 August 2024 (UTC)

Pathogenic variants in exons 5-6 of the PPM1D gene can cause the neurodevelopmental disorder known as Jansen-de Vries Syndrome (JdVS)^[1]^[2]^[3]^[4]^[5]^[6] .

References

^ Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Lord CJ, Vissers LE, de Vries BB (April 2017). "De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome". Am J Hum Genet. 100 (4): 650–58. doi:10.1016/j.ajhg.2017.02.005. PMC 5384016. PMID 28343630.
^ 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 BB, Curry CJ (July 2023). "Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families". Am J Med Genet A. 191 (7): 1900–10. doi:10.1002/ajmg.a.63226. PMC 10330231. PMID 37183572.
^ Semenova, N.A.; Dumova, S.V.; Chugunova, O.L.; Kotov, I.N.; Andreeva, N.I.; Markov, T.V.; Pomerantseva, E.A.; Korovko, A.I.; Tveleneva, A.A.; Mironova, I.V.; Konovalov, F.А.; Lozier, E.R.; Korshikova, G.A.; Babak, O.A. (February 2021). "Clinical Genetic Characteristics of Jansen-De Vries Syndrome Caused by Heterozygous Mutations in the Ppm1D Gene". Pediatria. Journal Named After G.N. Speransky. 100 (1): 277–82. doi:10.24110/0031-403x-2021-100-1-277-282. ISSN 0031-403X.
^ Li, Zhuoguang; Du, Caiqi; Zhang, Cai; Zhang, Mini; Ying, Yanqin; Liang, Yan; Luo, Xiaoping (2020-01-08). "Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome". Molecular Genetics & Genomic Medicine. 8 (3). doi:10.1002/mgg3.1120. ISSN 2324-9269. PMID 31916397.
^ Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching (April 2022). "Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review". Journal of the Formosan Medical Association. 121 (4): 856–860. doi:10.1016/j.jfma.2021.12.022. ISSN 0929-6646. PMID 35016835.
^ Tuiskula, Anna; Rahikkala, Elisa; Kero, Andreina; Haanpää, Maria K.; Avela, Kristiina (August 2023). "Jansen de Vries syndrome: Report of four new patients and review of the literature". European Journal of Medical Genetics. 66 (8): 104807. doi:10.1016/j.ejmg.2023.104807. ISSN 1769-7212. PMID 37385405.

External links

Jansen deVries Syndrome Foundation

[1] Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Lord CJ, Vissers LE, de Vries BB (April 2017). "De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome". Am J Hum Genet. 100 (4): 650–58. doi:10.1016/j.ajhg.2017.02.005. PMC 5384016. PMID 28343630.

[2] 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 BB, Curry CJ (July 2023). "Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families". Am J Med Genet A. 191 (7): 1900–10. doi:10.1002/ajmg.a.63226. PMC 10330231. PMID 37183572.

[3] Semenova, N.A.; Dumova, S.V.; Chugunova, O.L.; Kotov, I.N.; Andreeva, N.I.; Markov, T.V.; Pomerantseva, E.A.; Korovko, A.I.; Tveleneva, A.A.; Mironova, I.V.; Konovalov, F.А.; Lozier, E.R.; Korshikova, G.A.; Babak, O.A. (February 2021). "Clinical Genetic Characteristics of Jansen-De Vries Syndrome Caused by Heterozygous Mutations in the Ppm1D Gene". Pediatria. Journal Named After G.N. Speransky. 100 (1): 277–82. doi:10.24110/0031-403x-2021-100-1-277-282. ISSN 0031-403X.

[4] Li, Zhuoguang; Du, Caiqi; Zhang, Cai; Zhang, Mini; Ying, Yanqin; Liang, Yan; Luo, Xiaoping (2020-01-08). "Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome". Molecular Genetics & Genomic Medicine. 8 (3). doi:10.1002/mgg3.1120. ISSN 2324-9269. PMID 31916397.

[5] Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching (April 2022). "Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review". Journal of the Formosan Medical Association. 121 (4): 856–860. doi:10.1016/j.jfma.2021.12.022. ISSN 0929-6646. PMID 35016835.

[6] Tuiskula, Anna; Rahikkala, Elisa; Kero, Andreina; Haanpää, Maria K.; Avela, Kristiina (August 2023). "Jansen de Vries syndrome: Report of four new patients and review of the literature". European Journal of Medical Genetics. 66 (8): 104807. doi:10.1016/j.ejmg.2023.104807. ISSN 1769-7212. PMID 37385405.

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