Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

doi:10.1097/GIM.0b013e3181bd38a9

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Article

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2009

Rosenfeld Jill A, Leppig Kathleen, Ballif Blake C, Thiese Heidi, Erdie-Lalena Christine, Bawle Erwati, Sastry Sujatha, Spence J Edward, Bandholz Anne, Surti Urvashi, Zonana Jonathan, Keller Kory, Meschino Wendy, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa G

Abstract excerpt

PURPOSE: Pitt-Hopkins syndrome is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset seizures and intermittent episodes of hyperventilation. This syndrome is caused by haploinsufficiency of TCF4, which encodes a basic helix-loop-helix transcription factor. Missense, nonsense, splice-site mutations, and gene deletions have been found in individuals...

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Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19938247
DOI: 10.1097/GIM.0b013e3181bd38a9

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TCF4

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