Pitt-Hopkins Syndrome

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Xu, R. Pitt-Hopkins Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5348 (accessed on 25 September 2026).

Xu R. Pitt-Hopkins Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5348. Accessed September 25, 2026.

Xu, Rita. "Pitt-Hopkins Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5348 (accessed September 25, 2026).

Xu, R. (2020, December 24). Pitt-Hopkins Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5348

Xu, Rita. "Pitt-Hopkins Syndrome." Encyclopedia. Web. 24 December, 2020.

Pitt-Hopkins Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome

Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

genetic conditions

References

Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, CarterNP, Lyonnet S, Munnich A, Colleaux L. Mutations in TCF4, encoding a class I basichelix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome,a severe epileptic encephalopathy associated with autonomic dysfunction. Am J HumGenet. 2007 May;80(5):988-93.
Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W,Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused byhaploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet.2007 Jun 15;16(12):1488-94.
Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ. Functionalanalysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160.
Sweatt JD. Pitt-Hopkins Syndrome: intellectual disability due to loss ofTCF4-regulated gene transcription. Exp Mol Med. 2013 May 3;45:e21. doi:10.1038/emm.2013.32. Review.
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. Development,cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol. 2012Oct;54(10):925-31. doi: 10.1111/j.1469-8749.2012.04339.x.Review.
Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, GreallyMT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKeeS, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A.Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypicdescription of 16 novel patients. J Med Genet. 2008 Nov;45(11):738-44. doi:10.1136/jmg.2008.060129.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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