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Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

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Presentation on theme: "Exome Sequencing in Brown-Vialetto-Van Laere Syndrome"— Presentation transcript:

1 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 (October 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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

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