Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

doi:10.1086/515583

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Article

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

American journal of human genetics - 1 May 2007

Zweier Christiane, Peippo Maarit M, Hoyer Juliane, Sousa Sergio, Bottani Armand, Clayton-Smith Jill, Reardon William, Saraiva Jorge, Cabral Alexandra, Gohring Ina, Devriendt Koen, de Ravel Thomy, Bijlsma Emilia K, Hennekam Raoul C M, Orrico Alfredo, Cohen Monika, Dreweke Alexander, Reis Andre, Nurnberg Peter, Rauch Anita

Abstract excerpt

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing of the TCF4 transcription factor gene, which is contained in the deletion region, in 30 patients with significant...

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PMID: 17436255
DOI: 10.1086/515583
PMCID: PMC1852727

Genes

TCF4
ASCL1
RET

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).PMID 17436255Read ↗

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Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.Semantic proximity Read ↗

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