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

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

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
659 KB
Volume
30
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 studies illustrate that heterodimerisation of mutant TCF4 proteins with a tissue-specific transcription factor is less effective than that homodimerisation in a luciferase reporter assay. We also show that the TCF4 expression pattern in human embryonic development is widespread but not ubiquitous. In summary, we further delineate an underdiagnosed mental retardation syndrome, highlighting TCF4 function during development and facilitating diagnosis within the first year of life.

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