Genetic defect underlying a rare disease identified
Friday, November 13, 2015 - 11:20
in Biology & Nature
The genetic cause has been identified for a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy and ataxia (a movement disorder), when the patient reaches school age. In 2007 the same researchers published a mutation in the Scyl1 gene in a naturally occurring mouse mutant with similar symptoms. Using next-generation sequencing techniques, they have now succeeded in identifying the first cases of a corresponding condition in humans.