Background: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome, a so far underdiagnosed mental retardation syndrome characterized by a distinct facial gestalt, breathing anomalies and severe mental retardation.
Methods and results: We performed TCF4 mutational analysis in 117 patients with Pitt-Hopkins syndrome like features and identified 16 novel mutations. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures, and 44% had MRI anomalies.
Conclusion: We further delineate the mutational and clinical spectrum of Pitt-Hopkins syndrome and confirm its important role in the differential diagnosis of severe mental retardation.
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