Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

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Exome Sequencing in Brown-Vialetto-Van Laere Syndrome Janel O. Johnson, J. Raphael Gibbs, Lionel Van Maldergem, Henry Houlden, Andrew B. Singleton The American Journal of Human Genetics Volume 87, Issue 4, Pages 567-569 (October 2010) DOI: 10.1016/j.ajhg.2010.05.021 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 C20orf54 Mutations in Patients with BVVL (A) Heterozygous c.211G>A (p.E71K) mutation carried by both affected children (2008-410, II:2 and 2008-411, II:1) and the patients' father (I:2) but not by the patients' mother (I:1). (B) Heterozygous c.639C>G (p.Y213X) mutation carried by both affected siblings and their mother (2008-410, II:2; 2008-411, II:1; and I:1) but not by the father (I:2). (C) Homozygous c.82C>A (p.P28T) mutation carried by patient 48111 (IV:1) from family DZ. (D) Pedigrees of families DZ and 2008/13, probands indicated by arrows. The American Journal of Human Genetics 2010 87, 567-569DOI: (10.1016/j.ajhg.2010.05.021) Copyright © 2010 The American Society of Human Genetics Terms and Conditions