期刊
JOURNAL OF MEDICAL GENETICS
卷 45, 期 11, 页码 738-744出版社
B M J PUBLISHING GROUP
DOI: 10.1136/jmg.2008.060129
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资金
- Deutsche Forschungsgemeinschaft (DFG) [RA 833/7-1]
- Finland's Slot Machine Association
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.
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