Novel form of congenital lipodystrophy and fatty liver disease due to biallellic loss-of-function mutations in PCYT1A in two unrelated patients
The authors identified two unrelated patients with defects in the Kennedy pathway due to biallellic loss-of-function mutations in PCYT1A. The phenotypic consequences include severe fatty liver and low HDL cholesterol levels. Both patients also had lipodystrophy, severe insulin resistance and diabetes.
Early-onset autosomal recessive retinitis pigmentosa with macular coloboma is associated with a missense mutation in DHX38 in one consanguineous family
The authors described four individuals of a consanguineous Pakistani family affected by early-onset autosomal recessive retinitis pigmentosa with macular coloboma due to a missense mutation in DHX38.
New type of mitochondrial disorder due to a defect in mitochondrial protein synthesis linked to a homozygous mutation in TRIT1 in one family
The authors identified a novel form of severe combined mitochondrial respiratory chain defects and corresponding perturbation in mitochondrial protein synthesis associated to a homozygous mutation in TRIT1 in one family.