Author(s): Bertoli-Avella, Aida M., MD
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
Through genetic, clinical, and functional evidence, we demonstrated that loss-of-function of BLOC1S1 results in an autosomal recessive neurological disorder characterized by prominent leukodystrophy. The findings will be published in collaboration with the Children's Hospital of Philadelphia and several centers worldwide in the prestigious American Journal of Human Genetics. Four of the seven families studied were identified at CENTOGENE, originating from Portugal, Turkey, and the KSA.
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