Pitt-Hopkins Syndrome

Review

Pitt-Hopkins Syndrome

Victoria M. Pratt^{1

2}, Stuart A. Scott^{3

4}, Munir Pirmohamed^{5

6

7}, Bernard Esquivel^{8

9}, Brandi L. Kattman¹⁰, Adriana J. Malheiro¹¹

, editors.

In: Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

2012 Mar 8 [updated 2018 Aug 1].

Affiliations

Affiliation

¹ NCBI

Book Affiliations

¹ Adjunct Professor, Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202
² Director, Scientific Affairs Pharmacogenetics, Agena Bioscience, San Diego CA 92121
³ Professor, Department of Pathology Stanford University, Palo Alto, CA 94305
⁴ Director, Stanford Medicine Clinical Genomics Laboratory, Stanford, CA 94305
⁵ David Weatherall Chair of Medicine and UK National Health Service Chair of Pharmacogenetics, University of Liverpool, Liverpool, UK
⁶ Director, MRC Centre for Drug Safety Science and Wolfson Centre for Personalized Medicine, University of Liverpool, Liverpool, UK
⁷ Director, Health Data Research UK North, Liverpool, UK
⁸ CEO, GenXys, Vancouver, BC V6B 1B8, Canada
⁹ VP, Clinical Innovation, ixlayer, San Francisco, CA 94105
¹⁰ Chief, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894
¹¹ Project Lead, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894

PMID: 28520343
Bookshelf ID: NBK66129

Free Books & Documents

Review

Pitt-Hopkins Syndrome

Laura Dean.

Free Books & Documents

In: Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

2012 Mar 8 [updated 2018 Aug 1].

Author

Laura Dean¹

Book Editors

Victoria M. Pratt^{1

2}, Stuart A. Scott^{3

4}, Munir Pirmohamed^{5

6

7}, Bernard Esquivel^{8

9}, Brandi L. Kattman¹⁰, Adriana J. Malheiro¹¹

Affiliation

¹ NCBI

Book Affiliations

¹ Adjunct Professor, Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202
² Director, Scientific Affairs Pharmacogenetics, Agena Bioscience, San Diego CA 92121
³ Professor, Department of Pathology Stanford University, Palo Alto, CA 94305
⁴ Director, Stanford Medicine Clinical Genomics Laboratory, Stanford, CA 94305
⁵ David Weatherall Chair of Medicine and UK National Health Service Chair of Pharmacogenetics, University of Liverpool, Liverpool, UK
⁶ Director, MRC Centre for Drug Safety Science and Wolfson Centre for Personalized Medicine, University of Liverpool, Liverpool, UK
⁷ Director, Health Data Research UK North, Liverpool, UK
⁸ CEO, GenXys, Vancouver, BC V6B 1B8, Canada
⁹ VP, Clinical Innovation, ixlayer, San Francisco, CA 94105
¹⁰ Chief, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894
¹¹ Project Lead, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894

PMID: 28520343
Bookshelf ID: NBK66129

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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[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

[2] 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

[3] Peippo M., Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2012 Apr;2(3-5):171–180. - PMC - PubMed

[4] Peippo M., Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2012 Apr;2(3-5):171–180. - PMC - PubMed

[5] 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

[6] 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

[7] 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

[8] 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

[9] 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

[10] 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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Pitt-Hopkins Syndrome

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Pitt-Hopkins Syndrome

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