Molecular Diagnostic Criteria
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Pitt-Hopkins syndrome.
Which data determine that a finding may be indicated if the cause of PTHS is found as a variant in TCF4 for DNA?
On the basis of which characteristics of the DNA can the diagnosis PTHS be made?
Recommendation(s)
Molecular Diagnostic Criteria
R3 TCF4 variants can cause PTHS but can also cause other intellectual disability associated phenotypes which should not be labeled PTHS.
A+++
R4 Empirically, after the birth of an individual with molecularly confirmed PTHS, a recurrence risk of 2% should be given.
A++
R5 Interpretation of variants in TCF4 require consideration of the phenotype of the tested individual, pattern of inheritance of the phenotype and the variant, earlier experience with the variant, and nature and localization of the variant, using ACMG criteria.
A+++
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