The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
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RESEARCH
Open Access
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia Aurore Curie1,2,3,4*, Tatjana Nazir2, Amandine Brun1,2, Yves Paulignan2, Anne Reboul2, Karine Delange1,2, Anne Cheylus2, Sophie Bertrand2, Fanny Rochefort2, Gérald Bussy1,2, Stéphanie Marignier1, Didier Lacombe5, Catherine Chiron6, Mireille Cossée7, Bruno Leheup8, Christophe Philippe8, Vincent Laugel9, Anne De Saint Martin9, Silvia Sacco10, Karine Poirier11, Thierry Bienvenu11, Isabelle Souville11, Brigitte Gilbert-Dussardier12, Eric Bieth13, Didier Kauffmann14, Philippe Briot15, Bénédicte de Fréminville16, Fabienne Prieur16, Michel Till17, Caroline Rooryck-Thambo5, Isabelle Mortemousque18, Isabelle Bobillier-Chaumont2, Annick Toutain18, Renaud Touraine16, Damien Sanlaville19, Jamel Chelly11, Sonya Freeman4, Jian Kong4, Nouchine Hadjikhani4, Randy L Gollub4, Alice Roy2 and Vincent des Portes1,2,3
Abstract Background: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as “non-specific Intellectual Disability”. The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation. Methods: We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13 ARX patients, kinematic and MRI studies were further accomplished to better characterize the motor impairment prevalent in the ARX patients group. To ensure that data were specific to the ARX gene mutation and did not result from low-cognitive functioning per se, a group of 27 age- and IQ-matched Down syndrome patients served as control. (Continued on next page)
* Correspondence: [email protected] 1 Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France 2 CNRS UMR 5304, L2C2, Institut des Sciences Cognitives, F- 69675 Bron, France Full list of author information is available at the end of the article © 2014 Curie et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Curie et al. Orphanet Journal of Rare Diseases 2014, 9:25 http://www.ojrd.com/content/9/1/25
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