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Targeted Next-Generation Sequencing of a 12

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1 Targeted Next-Generation Sequencing of a 12
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia  Sascha Vermeer, Alexander Hoischen, Rowdy P.P. Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Koenig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, Slobodanka Todorovic, Vedrana Milic-Rasic, Hanns Lochmüller, Giovanni Stevanin, Cyril Goizet, Albert David, Alexandra Durr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris Veltman, Erik-Jan Kamsteeg, Hans Scheffer, Nine Knoers  The American Journal of Human Genetics  Volume 87, Issue 6, Pages (December 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Identifcation of ANO10 Mutation in the Dutch Family A with Autosomal-Recessive Cerebellar Ataxia (A) Pedigree for the Dutch family A together with the segregation of the mutation identified in this family. M1/M1 indicates homozygous carriers of the p.Leu510Arg mutation, and M1/+ indicates heterozygous carriers. The proband is indicated by an arrow. Unfortunately, DNA was not available for individual A:V.3. (B) Coverage histogram of ANO10. Upper part: Sequence-read histograms uploaded to the UCSC Genome Browser display the sequencing depth of all exons of ANO10. Tracks displayed: scale, chromosomal position, read depth histogram per bp (between 0 and 60-fold coverage; higher than 60-fold coverage is not displayed), RefSeq gene track, highly conserved elements (PhastCons Placental Mammal Conserved Elements, 28-way Multiz Alignment). Lower part: Next-generation sequencing-read coverage of ANO10 exons 8–10. Tracks displayed: scale, chromosomal position, individual 454 sequencing reads, RefSeq gene track. (C) Mutation visualization in the IGV browser. Individual reads overlapping with the mutation are displayed. Seventeen of eighteen reads show the homozygous mutation at genomic position chr3: (the reads are mapped and displayed on the + strand). (D) Verification by Sanger sequencing of missense mutation c.1529T>G (p.Leu510Arg) in ANO10 (accession number NM_ ). (E) Sequence comparison of ANO10 in different species. The amino acid that is mutated in the Dutch family is depicted, indicated by an arrow. The amino acid is highly conserved throughout different species, including the fruit fly. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Pedigree Structure of Two Additional Families, B and C
Pedigrees for family B, from Serbia, and family C, from France, together with the segregation of the mutations identified in these families. M2/M2 indicates homozygous carriers of the p.Leu384fs mutation, and M2/+ indicates heterozygous carriers, whereas +/+ indicates individuals with two wild-type alleles. M3/M4 indicates compound-heterozygous carriers for the c G>T and the p.Leu535X mutations, and M4/+ indicates heterozygous carriers for the p.Leu535X mutation. For family B, the degree of consanguinity is not known. Unfortunately, DNA was not available for individual C:I.1. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Expression of ANO10 in Different Human Tissues, Seen by qPCR
(A) Expression of ANO10 in different adult tissues, with the highest expression seen in the brain. (B) Expression of ANO10 in different brain tissues, with the highest expression seen in the adult cerebellum and frontal and occipital cortices. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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