Pitt-Hopkins syndrome

Common Name(s)

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a rare genetic condition that causes learning issues and developmental delays, breathing problems, chronic seizures (epilepsy), and unique facial features. Children with Pitt-Hopkins syndrome have delays in meeting milestones, including walking, talking, and using their fingers to pick up small objects (fine motor skills). Most affected individuals do not develop speech. Breathing problems include periods of rapid breathing (hyperventilation) followed by breathing that is slowed or completely stopped (apnea). Seizures can either be present at birth or develop during childhood. Facial features in individuals with Pitt-Hopkins include thin eyebrows, sunken eyes, a large nose, noticeable curve of the upper lip (Cupid’s bow), and a wide mouth with full lips. Other features may include small head size (microcephaly), nearsightedness, and height that is less than average (short stature).

Pitt-Hopkins syndrome is caused by a change (mutation) in the TCF4 gene and is inherited in an autosomal dominant manner, which means a mutation in only one of the two TCF4 gene copies a person has is enough to cause the condition. Most cases of Pitt-Hopkins syndrome are not inherited and are instead due to a new (de novo) mutation that is only present in the affected person and not in either of the parents.

Pitt-Hopkins is considered in a child who has delays in development, episodes of abnormal breathing, and unique facial features. The diagnosis is confirmed with genetic testing. Treatment options may include therapies to improve development. Medications may be used to help control seizures. If your child has been diagnosed with Pitt-Hopkins syndrome, talk with their doctor about all current treatment options. Support groups are a good source for additional information and to connect with other families affected by Pitt-Hopkins syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pitt-Hopkins syndrome" for support, advocacy or research.

Pitt Hopkins Research Foundation

The mission of the Pitt Hopkins Research Foundation (PHRF) is to support research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins syndrome and other similar disorders. The PHRF is also dedicated to supporting the Pitt Hopkins community with resource recommendations, parental support and the latest medical information. Our board and officers are parents and professionals who volunteer their time, so that 98% of all funds raised and donated go to finding a cure. Our goal is to find a treatment as quickly as possible that will help give our children fuller, higher functioning lives.

Last Updated: 12 Jan 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pitt-Hopkins syndrome" for support, advocacy or research.

Pitt Hopkins Research Foundation

The mission of the Pitt Hopkins Research Foundation (PHRF) is to support research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins syndrome and other similar disorders. The PHRF is also dedicated to supporting the Pitt Hopkins community with resource recommendations, parental support and the latest medical information. Our board and officers are parents and professionals who volunteer their time, so that 98% of all funds raised and donated go to finding a cure. Our goal is to find a treatment as quickly as possible that will help give our children fuller, higher functioning lives.

http://www.pitthopkins.org

Last Updated: 12 Jan 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pitt-Hopkins syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
 

Author(s): Mari Sepp, Priit Pruunsild, Tõnis Timmusk

Journal: Hum. Mol. Genet.. 2012 Jul;21(13):2873-88.

 

Transcription factor TCF4 (alias ITF2, SEF2 or E2-2) is a broadly expressed basic helix-loop-helix (bHLH) protein that functions as a homo- or heterodimer. Missense, nonsense, frame-shift and splice-site mutations as well as translocations and large deletions encompassing TCF4 gene ...

Last Updated: 13 Jun 2012

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TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
 

Author(s): Derek J Blake, Marc Forrest, Ria M Chapman, Caroline L Tinsley, Michael C O'Donovan, Michael J Owen

Journal: Schizophr Bull. 2010 May;36(3):443-7.

 

Genome-wide association studies allied with the identification of rare copy number variants have provided important insights into the genetic risk factors for schizophrenia. Recently, a meta-analysis of several genome-wide association studies found, in addition to several other markers, ...

Last Updated: 2 Jun 2010

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Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
 

Author(s): Grazia Taddeucci, Alice Bonuccelli, Ilaria Mantellassi, Alessandro Orsini, Enrico Tarantino

Journal:

 

We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies.

Last Updated: 8 Mar 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pitt-Hopkins syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
 

Author(s): J David Sweatt

Journal:

 

TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk ...

Last Updated: 3 May 2013

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Development, cognition, and behaviour in Pitt-Hopkins syndrome.
 

Author(s): Ingrid D C Van Balkom, Pieter Jelle Vuijk, Marijke Franssens, Hans W Hoek, Raoul C M Hennekam

Journal: Dev Med Child Neurol. 2012 Oct;54(10):925-31.

 

The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD).

Last Updated: 11 Sep 2012

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Hyperventilation and the Pitt-Hopkins syndrome.
 

Author(s): Robert Ouvrier

Journal: Dev Med Child Neurol. 2008 Jul;50(7):481.

 

Last Updated: 9 Jul 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.