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J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Abstract

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.

PMID:
18728071
DOI:
10.1136/jmg.2008.060129
[Indexed for MEDLINE]

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