Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

doi:10.1016/j.ajhg.2017.05.010

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Article

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

American journal of human genetics - 6 Jul 2017

Van De Weghe Julie C, Rusterholz Tamara D S, Latour Brooke, Grout Megan E, Aldinger Kimberly A, Shaheen Ranad, Dempsey Jennifer C, Maddirevula Sateesh, Cheng Yong-Han H, Phelps Ian G, Gesemann Matthias, Goel Himanshu, Birk Ohad S, Alanzi Talal, Rawashdeh Rifaat, Khan Arif O, Bamshad Michael J, Nickerson Deborah A, Neuhauss Stephan C F, Dobyns William B, Alkuraya Fowzan S, Roepman Ronald, Bachmann-Gagescu Ruxandra, Doherty Dan

Abstract excerpt

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic...

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PMID: 28625504
DOI: 10.1016/j.ajhg.2017.05.010
PMCID: PMC5501774

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