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Related Experiment Video

Updated: May 21, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Pitt-Hopkins Syndrome.

M Peippo1, J Ignatius

  • 1Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland.

Molecular Syndromology
|June 7, 2012
PubMed
Summary
This summary is machine-generated.

Pitt-Hopkins syndrome (PTHS) is a genetic disorder caused by TCF4 gene haploinsufficiency. Diagnosis relies on clinical features and molecular confirmation of TCF4 gene abnormalities.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder.
  • Characterized by severe intellectual disability, distinct facial features, breathing anomalies, and epilepsy.
  • Congenital malformations are rare in PTHS patients.

Purpose of the Study:

  • To summarize the current understanding of Pitt-Hopkins syndrome etiology and clinical presentation.
  • To review the spectrum of TCF4 gene mutations associated with PTHS.
  • To differentiate PTHS from similar genetic conditions.

Main Methods:

  • Literature review of published cases of PTHS and TCF4 gene abnormalities.
  • Analysis of mutation types, including deletions, frameshifts, nonsense, splice site, and missense mutations.
  • Comparison of clinical phenotypes with identified genetic mutations.

Main Results:

  • PTHS is caused by de novo haploinsufficiency of the TCF4 gene located at 18q21.2.
  • Over 100 patients with TCF4 abnormalities have been reported, including those with 18q deletions.
  • The mutational spectrum is diverse, with most mutations being private; no clear genotype-phenotype correlation exists.
  • Pitt-Hopkins-like phenotypes are associated with CNTNAP2 and NRXN1 gene mutations.

Conclusions:

  • TCF4 gene haploinsufficiency is the primary cause of Pitt-Hopkins syndrome.
  • Molecular confirmation of TCF4 gene alterations is essential for PTHS diagnosis.
  • Further research may elucidate genotype-phenotype correlations and expand diagnostic criteria.