Transcription Factor 4 (TCF4) testing for Pitt-Hopkins Syndrome (PTHS)

Record ID 32012000127
Authors' recommendations: Pitt-Hopkins syndrome (PTHS) is a very rare, severe encephalopathy that has been diagnosed in fewer than 250 individuals worldwide. PTHS is characterized by severe intellectual disability, motor incoordination and speech impairment, and characteristic facial features. Individuals with PTHS commonly have seizures and breathing abnormalities such as hyperventilation and apnea. Other symptoms that may occur with PTHS include clubbing of fingers and toes; constipation; postnatal growth slowing, particularly of the head; stereotypical hand movements; flat feet; a single crease across the palms; small hands and feet; ocular anomalies; short stature; subtle brain abnormalities; and cryptorchidism in males. Symptoms of PTHS overlap with those of similar intellectual disability disorders such as Angelman (AS), Rett (RTT), and Mowat-Wilson (MWS) syndromes. PTHS is associated with genetic variants in the transcription factor 4 (TCF4) gene. TCF4 encodes a transcription factor that plays an important role in regulation of cell differentiation and cell growth. TCF4 is located on the long arm of chromosome 18 at band q21.1, and contains twenty exons. The development of disease is associated with the presence of genetic variants in one of the two copies of an individual's TCF4 gene (i.e., it is an autosomal dominant disorder, although most cases are de novo in nature [i.e., not inherited from a parent]). There is currently no cure for PTHS, and treatment is symptom driven.
Project Status: Completed
Year Published: 2012
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Humans
  • Hyperventilation
  • Intellectual Disability
  • Transcription Factors
  • TCF Transcription Factors
  • Language Development Disorders
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
Contact Email:
Copyright: 2011 Winifred S. Hayes, Inc
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