Journal of medical genetics · 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
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Zweier C, Sticht H, Bijlsma E K, Clayton-Smith J, Boonen S E, Fryer A, Greally M T, Hoffmann L, den Hollander N S, Jongmans M, Kant S G, King M D, Lynch S A, McKee S, Midro A T, Park S-M, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A
Аннотация
BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.
METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
RESULTS: In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies.
CONCLUSION: This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.
METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
RESULTS: In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies.
CONCLUSION: This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.