Pitt-Hopkins syndrome (PTHS)

What is Pitt-Hopkins syndrome (PTHS)?

Pitt-Hopkins syndrome is a genetic disorder with symptoms including, intellectual disability, characteristic facial features and abnormal pattern of respiration or breathing (hyperventilation followed by apnea).

Seizures and unique facial features are also considered characteristic of this rare congenital, multiple anomalies disease.

What gene changes cause Pitt-Hopkins syndrome (PTHS)?

The syndrome is caused by mutations to the gene TCF4 on chromosome 18.

Mutations are de novo and not inherited. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Pitt-Hopkins syndrome (PTHS)?

Individuals with the syndrome may suffer with varying degrees of intellectual disability and developmental delays. Behavioural problems are also common. Most adults with the syndrome are affected by a lack of speech ability.

Facial and physical characteristics include deep set eyes, myopia, a broad or beaked nasal bridge, a large mouth, tented upper lip, widely spaced teeth, a wide and shallow palate and ears with a thick and overfolded helix.

Other health conditions include gastrointestinal issues, seizures and rapid breathing or breath holding.

How does someone get tested for Pitt-Hopkins syndrome (PTHS)?

The initial testing for Pitt-Hopkins syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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