Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika.

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Presentation transcript:

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clemenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bole-Feysot, Jean-Pierre Bernard, Laurence Loeuillet, Marie Gonzales, Koryna Socha, Bernard Grandchamp, Tania Attié-Bitach, Férechté Encha-Razavi, Nathalie Seta The American Journal of Human Genetics Volume 91, Issue 6, Pages 1135-1143 (December 2012) DOI: 10.1016/j.ajhg.2012.10.009 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Diagram of the ISPD and TMEM5 Exon-Intron Gene Structure All the pathogenic changes identified in this study (bold) and in two previous ISPD studies, Roscioli et al., 201230 (λ) and Willer et al., 201231 (λ λ) are included. The American Journal of Human Genetics 2012 91, 1135-1143DOI: (10.1016/j.ajhg.2012.10.009) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Results of Molecular Diagnosis of Cobblestone-LIS Fetuses (A) Proportion of cases diagnosed after this study in our cohort of 90 cobblestone-LIS fetuses. (B) Contribution of alpha-dystroglycanopathy gene mutations in our 58 diagnosed cobblestone-LIS fetuses. The American Journal of Human Genetics 2012 91, 1135-1143DOI: (10.1016/j.ajhg.2012.10.009) Copyright © 2012 The American Society of Human Genetics Terms and Conditions