Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

doi:10.1016/j.ajhg.2020.04.005

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Article

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

American journal of human genetics - 4 Jun 2020

Cogné Benjamin, Latypova Xenia, Senaratne Lokuliyanage Dona Samudita, Martin Ludovic, Koboldt Daniel C, Kellaris Georgios, Fievet Lorraine, Le Meur Guylène, Caldari Dominique, Debray Dominique, Nizon Mathilde, Frengen Eirik, Bowne Sara J, Cadena Elizabeth L, Daiger Stephen P, Bujakowska Kinga M, Pierce Eric A, Gorin Michael, Katsanis Nicholas, Bézieau Stéphane, Petersen-Jones Simon M, Occelli Laurence M, Lyons Leslie A, Legeai-Mallet Laurence, Sullivan Lori S, Davis Erica E, Isidor Bertrand

Abstract excerpt

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents...

Topics

Amino Acid Sequence
Animals
Cats
Child, Preschool
Cilia
Ciliopathies
Female
Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genome-Wide Association Study

Heterozygote

Humans

Kinesins

Larva

Male

Middle Aged

Mutation

Pedigree

Phenotype

Source

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Identifiers

PMID: 32386558
DOI: 10.1016/j.ajhg.2020.04.005
PMCID: PMC7273529

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