Pitt-Hopkins syndrome: case report of a patient with attenuated phenotype
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Abstract
Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental syndrome caused by mutations in the TCF4 gene usually associated with neuropsychomotor delay, seizures, respiratory disorders, intellectual disability and facial dysmorphism. Here we report a Brazilian patient harboring mutation in TCF4 gene, showing few clinical signs of
PTHS, in spite of not presenting the characteristic respiratory disorder seen in many reported patients. Our patient has a new mutation in the TCF4 gene not described in the literature so far and a more attenuated clinical phenotype compared with other patients.
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References
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