Pitt-hopkins syndrome


What is Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in a specific gene, people with PTHS lack a protein. This protein is a transcription factor or gene regulating protein - they bind to DNA and regulate the expression of other genes. The lack of this protein can lead to lots of different problems in the body, particularly the brain and central nervous system. Children with PTHS can have different symptoms. Common signs or symptoms include moderate to mild intellectual disability, delays in reaching developmental milestones, breathing problems, distinctive facial features, seizures, and behavioral problems. Some children learn to speak a few words, but many do not speak at all. Children can have autistic-like behaviors and PTHS is considered an autism spectrum disorder. PTHS is usually caused by alterations (mutations) in the transcription 4 (TCF4) gene. Most of these alterations occur randomly and are not inherited from a parent.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/pitt-hopkins-syndrome/overview/60532 • DATE UPDATED: 2016-11-19


Ardinger HH, Welsh HI, Saunders CJ. Pitt-Hopkins Syndrome. GeneReviews website. Accessed November 12, 2016. https://www.ncbi.nlm.nih.gov/books/NBK100240/

Pitt-Hopkins syndrome. Genetics Home Reference website. Accessed November 12, 2016. https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome#

de Winter CF, Baas M, Bijlsma EK, et al. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. Orphanet J Rare Dis. 2016;11:37. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830011/

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