Article
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Human mutation - 1 Dec 2020
Epting Daniel, Senaratne Lokuliyange D S, Ott Elisabeth, Holmgren Asbjørn, Sumathipala Dulika, Larsen Selma M, Wallmeier Julia, Bracht Diana, Frikstad Kari-Anne M, Crowley Suzanne, Sikiric Alma, Barøy Tuva, Käsmann-Kellner Barbara, Decker Eva, Decker Christian, Bachmann Nadine, Patzke Sebastian, Phelps Ian G, Katsanis Nicholas, Giles Rachel, Schmidts Miriam, Zucknick Manuela, Lienkamp Soeren S, Omran Heymut, Davis Erica E, Doherty Dan, Strømme Petter, Frengen Eirik, Bergmann Carsten, Misceo Doriana
Abstract excerpt
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on magnetic resonance imaging scans, and polydactyly. We identified biallelic loss-of-function (LOF) variants in CBY1,...
Topics
- Abnormalities, Multiple
- Adolescent
- Animals
- Carrier Proteins
- Cerebellum
- Child
- Child, Preschool
- Cilia