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Screening for CDG type Ia in Joubert syndrome
Eva Morava1, Beatrix Cser, Judit Kárteszi
1Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands. e.morava@cukz.umcn.nl
Summary
Joubert syndrome and congenital disorders of glycosylation (CDG) share symptoms. Screening for CDG type Ia is crucial in children with Joubert syndrome, as two patients were re-diagnosed with CDG Ia.
Area of Science:
- Genetics and Neurology
- Metabolic Disorders
Background:
- Joubert syndrome presents with hypotonia, ataxia, and developmental delays.
- Congenital disorders of glycosylation (CDG) type Ia share symptoms like hypotonia and ataxia.
- Overlap suggests a potential link between Joubert syndrome and protein glycosylation disorders.
Purpose of the Study:
- To investigate the prevalence of congenital disorders of glycosylation (CDG) in children diagnosed with Joubert syndrome.
Main Methods:
- Five children with Joubert syndrome were screened for CDG.
- Clinical data, neuro-imaging, and genetic analyses were reviewed.
- Diagnostic methods included serum transferrin isoelectric focusing, enzyme activity assays, and DNA mutation analysis.
Main Results:
- Two of the five Joubert syndrome patients were diagnosed with CDG type Ia.
- Distinct clinical features differentiated the two syndromes.
Conclusions:
- Congenital disorders of glycosylation should be screened in patients with Joubert syndrome and congenital vermis malformations.