Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

doi:10.1002/humu.20935

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Article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

Human mutation - 1 Apr 2009

de Pontual Loïc, Mathieu Yves, Golzio Christelle, Rio Marlène, Malan Valérie, Boddaert Nathalie, Soufflet Christine, Picard Capucine, Durandy Anne, Dobbie Angus, Heron Delphine, Isidor Bertrand, Motte Jacques, Newburry-Ecob Ruth, Pasquier Laurent, Tardieu Marc, Viot Géraldine, Jaubert Francis, Munnich Arnold, Colleaux Laurence, Vekemans Michel, Etchevers Heather, Lyonnet Stanislas, Amiel Jeanne

Abstract excerpt

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that EEG, brain magnetic resonance imagain (MRI), and immunological investigations provide valuable additional clues to the diagnosis. We confirm a mutational hot spot in the basic domain of the E-protein. Functional...

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PMID: 19235238
DOI: 10.1002/humu.20935

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TCF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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