Pitt–Hopkins syndrome

Pitt–Hopkins syndrome is a rare neurodevelopmental disorder usually caused by changes affecting TCF4. It is characterized by developmental delay, distinctive facial features, and episodes of abnormal breathing.

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TCF4: TCF4 is a gene encoding a transcription factor that regulates the activity of other genes during development. Changes affecting this gene account for most cases of Pitt–Hopkins syndrome.
Neurodevelopmental disorder: A neurodevelopmental disorder arises from atypical development of the brain and nervous system. Pitt–Hopkins syndrome affects development and functioning across multiple areas.
Clinical genetic testing: Clinical genetic testing analyzes DNA to help diagnose inherited or de novo genetic conditions. Testing can identify pathogenic TCF4 variants or deletions involving the gene.
Hyperventilation: Hyperventilation is breathing that is faster or deeper than the body’s metabolic needs, lowering carbon dioxide levels. Episodes of rapid breathing are a characteristic respiratory feature of Pitt–Hopkins syndrome.
Pitt–Hopkins syndrome discovery: Pitt–Hopkins syndrome was first described as a distinct clinical condition in 1978. The original clinical description established the recognizable pattern later linked to TCF4.
Transcription factor: A transcription factor is a protein that binds DNA or other proteins to regulate gene expression. TCF4 produces a transcription factor whose altered activity underlies the syndrome.
Developmental delay: Developmental delay is slower-than-expected progress in one or more areas of early childhood development. It is a defining feature, often affecting speech, movement, and learning.
Chromosomal microarray: Chromosomal microarray detects gains and losses of DNA across the genome at relatively high resolution. It can reveal deletions on chromosome 18 that include TCF4.
Apnea: Apnea is a temporary pause or cessation of breathing. Breathing pauses can alternate with hyperventilation in affected individuals.
Walter Pitt: Walter Pitt was an Australian physician who co-described Pitt–Hopkins syndrome. His clinical work contributed to the syndrome’s first published description.