Doctors found a novel gene mutation in two siblings with the same rare disorder.
In their first few months of life, two siblings rapidly lost most of their body fat. Now, doctors have found the cause: a DNA mutation never previously linked to their underlying disease.
To inherit the disorder, children must get one copy of a dysfunctional gene from each parent; the exact gene varies depending on the subtype. Infants with the disorder appear very muscular and veiny due to their general lack of fat and the fact that the little fat they retain tends to build up in their muscles. Fat also builds up in the liver, causing enlargement and eventual damage.
Each kind of CGL comes with a unique genetic cause and associated symptoms, and the siblings were found to have a particularly rare subtype known as type 4.
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