Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
✍ Scribed by Sandra Whalen; Delphine Héron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Françoise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu-Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; Martine Le Merrer; Marlène Rio; Dragana Josifova; Johanna Maria Van Hagen; Didier Lacombe; Patrick Edery; Sophie Dupuis-Girod; Audrey Putoux; Damien Sanlaville; Richard Fischer; Loïc Drévillon; Audrey Briand-Suleau; Corinne Metay; Michel Goossens; Jeanne Amiel; Aurelia Jacquette; Irina Giurgea
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 356 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Pitt-Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum of Rett-like syndromes. TCF4, encoding a basic helix-loop-helix (bHLH) transcription factor, was identified as the disease-causing gene with de novo molecular defects. While PTHS appears to be a recognizable clinical entity, it seems to remain underdiagnosed, especially when facial gestalt is less typical. With the aim to facilitate the diagnosis of PTHS and to increase its rate and specificity, we have inves-