Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations
Jennifer Heeley1, Marwan Shinawi
1Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO.
American Journal of Medical Genetics. Part A
|February 25, 2015
Summary
NGLY1-related disorder, caused by NGLY1 gene mutations, presents with neurological and hepatic issues. This study identifies new variants and expands the known phenotype, including osteopenia and hypocholesterolemia.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- NGLY1-related disorder is a rare autosomal recessive condition.
- It is linked to mutations in the NGLY1 gene, crucial for glycoprotein deglycosylation in ERAD.
- The disorder presents with diverse neurological, hepatic, and ophthalmological symptoms.
