Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

doi:10.1016/j.ajhg.2015.09.009

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Article

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

American journal of human genetics - 5 Nov 2015

Srour Myriam, Hamdan Fadi F, McKnight Dianalee, Davis Erica, Mandel Hanna, Schwartzentruber Jeremy, Martin Brissa, Patry Lysanne, Nassif Christina, Dionne-Laporte Alexandre, Ospina Luis H, Lemyre Emmanuelle, Massicotte Christine, Laframboise Rachel, Maranda Bruno, Labuda Damian, Décarie Jean-Claude, Rypens Françoise, Goldsher Dorith, Fallet-Bianco Catherine, Soucy Jean-François, Laberge Anne-Marie, Maftei Catalina, Boycott Kym, Brais Bernard, Boucher Renée-Myriam, Rouleau Guy A, Katsanis Nicholas, Majewski Jacek, Elpeleg Orly, Kukolich Mary K, Shalev Stavit, Michaud Jacques L

Abstract excerpt

Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population. We studied 43 FC JBTS subjects from 35...

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PMID: 26477546
DOI: 10.1016/j.ajhg.2015.09.009
PMCID: PMC4667103

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