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Review

Pitt-Hopkins Syndrome

Laura Dean  1
Victoria M. Pratt  1   2 , Stuart A. Scott  3   4 , Munir Pirmohamed  5   6   7 , Bernard Esquivel  8   9 , Brandi L. Kattman  10 , Adriana J. Malheiro  11
, editors.
In: Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012.
[updated ].
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Review

Pitt-Hopkins Syndrome

Laura Dean.
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Excerpt

Pitt-Hopkins syndrome is a rare neurodevelopmental disorder caused by loss of function of one allele of the TCF4 gene. Most cases result from a de novo mutation that leads to a functional loss of one copy of the TCF4 gene. Other cases result from a deletion of the chromosome region in which the TCF4 gene is located (18q21.2).

Pitt-Hopkins syndrome is characterized by distinctive facial features (e.g., deep-set eyes, prominent nose, wide mouth with widely spaced teeth), global developmental delay, and moderate-severe intellectual disability. Breathing problems and epilepsy often occur.

Once Pitt-Hopkins syndrome has been suspected clinically, the diagnosis is confirmed by molecular genetic testing of the TCF4 gene.

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References

    1. Sweatt J.D. Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med. 2013 May 03;45:e21. - PMC - PubMed
    1. Peippo M., Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2012 Apr;2(3-5):171–180. - PMC - PubMed
    1. Marangi G., Zollino M. Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. J Pediatr Genet. 2015 Sep;4(3):168–76. - PMC - PubMed
    1. Amiel J., Rio M., de Pontual L., Redon R., et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. American journal of human genetics. 2007 May;80(5):988–93. - PMC - PubMed
    1. Zweier C., Peippo M.M., Hoyer J., Sousa S., et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). American journal of human genetics. 2007 May;80(5):994–1001. - PMC - PubMed

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