Article
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Human mutation - 1 Nov 2015
Vodopiutz Julia, Seidl Rainer, Prayer Daniela, Khan M Imran, Mayr Johannes A, Streubel Berthold, Steiß Jens-Oliver, Hahn Andreas, Csaicsich Dagmar, Castro Christel, Assoum Mirna, Müller Thomas, Wieczorek Dagmar, Mancini Grazia M S, Sadowski Carolin E, Lévy Nicolas, Mégarbané André, Godbole Koumudi, Schanze Denny, Hildebrandt Friedhelm, Delague Valérie, Janecke Andreas R, Zenker Martin
Abstract excerpt
Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Biopsy
- Brain
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis