Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel,

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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne-Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean-Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet-Bianco, Jean-François Soucy, Anne-Marie Laberge, Catalina Maftei, Kym Boycott, Bernard Brais, Renée-Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit Shalev, Jacques L. Michaud The American Journal of Human Genetics Volume 97, Issue 5, Pages 744-753 (November 2015) DOI: 10.1016/j.ajhg.2015.09.009 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 CEP104 Mutations in JBTS-Affected Families (A) Localization of the identified mutations in CEP104 (upper panel) and CEP104 (lower panel; 925 amino acids). The coiled-coiled (CC) domains (amino acid positions 209–289 and 677–725 according to UniProt: O60308) are highlighted in yellow. (B) Segregation of CEP104 mutations within families. (C) Brain MRI images of the JBTS individuals with CEP104 mutations from family 618 (a and a′), family A_I (b and b′), and GeneDx1 (c and c′). Axial T1-weighted (a) and T2-weighted (b and c) images show the molar tooth sign with deepened interpeduncular fossa and elongated, thickened, and abnormally orientated superior cerebellar peduncles. Sagittal T1-weighted images (a′, b′, and c’) show hypoplasia of the cerebellar vermis (arrow). The American Journal of Human Genetics 2015 97, 744-753DOI: (10.1016/j.ajhg.2015.09.009) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 Locus and Allelic Heterogeneity of JBTS in FC Individuals The graph shows the number of different alleles associated with JBTS in FC individuals. The total number (n) of JBTS-affected families with mutations in the indicated genes is shown beneath the gene name. The number of families bearing the recurrent alleles is noted in parentheses following the allele name on the x axis. Deletion 1 refers to chr2: 110,826,262–110,978,224, and deletion 2 refers to chr2: 110,862,369–110,978,000 (hg19 genome assembly). The American Journal of Human Genetics 2015 97, 744-753DOI: (10.1016/j.ajhg.2015.09.009) Copyright © 2015 The American Society of Human Genetics Terms and Conditions