YKT6 Gene Variants Linked to Novel Genetic Disorder Affecting Brain and Liver

Three children diagnosed with YKT6 variants experienced developmental delays, failure to thrive from 4-6 months of age, and two face increased risk of liver cancer.

In the quiet language of inherited biology, three infants on different continents began their lives with a shared and previously unnamed burden — mutations in a gene called YKT6, whose role in human disease had never before been recognized. Researchers at Baylor College of Medicine and Boston Children's Hospital have now mapped this burden for the first time, tracing it to a disruption in autophagy, the cell's ancient system for clearing its own debris. The discovery is both a naming — rare disorders gain power when they are named — and a beginning, as science moves from recognition toward the

YKT6 Gene Variants Linked to Novel Genetic Disorder Affecting Brain and Liver

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