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Article

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

Clinical genetics - 1 Sept 2010

Takano K, Lyons M, Moyes C, Jones J, Schwartz C E

Abstract excerpt

The TCF4 gene encodes a basic helix-loop-helix (bHLH) transcription factor which belongs to the family of E-proteins. E-proteins form homo- and heterodimers with other members of the HLH family and bind to the common DNA sequence called E-box. Haploinsufficiency of the TCF4 gene has been found to be associated with the Pitt-Hopkins syndrome (PTHS). PTHS is characterized by severe mental retardation, a wide mouth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20184619
DOI: 10.1111/j.1399-0004.2010.01380.x

Genes

TCF4

Variants

Provenance

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Related research

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Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.PMID 20184619Read ↗

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene.Semantic proximity Read ↗

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