Mutation in the AGK gene in two siblings with unusual Sengers syndrome
We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome. Our patients presented an intermediate form with intellectual deficiency, an unusual feature in Sengers syndrome. This permitted a prenatal diagnosis for a following pregnancy.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
More News: Brain | Cardiology | Cardiomyopathy | Cataracts | Disability | Genetics | Heart | Hypertrophic Cardiomyopathy | Neurology | Perinatology & Neonatology | Pregnancy | Sports Medicine