Transcription, Translation, And Regulation Practice Test

A 34-year-old woman presents with a 3-month history of joint pain, fatigue, and a facial rash that worsens with sun exposure. Physical examination reveals a malar rash. Laboratory studies are significant for antinuclear antibodies (ANA), anti-dsDNA antibodies, and anti-Smith antibodies. The patient's autoantibodies are known to target components of the spliceosome.

A 9-month-old infant is evaluated for developmental delay, coarse facial features, and restricted joint movement. Physical examination reveals hepatosplenomegaly and clouded corneas. Laboratory analysis of the patient's fibroblasts shows accumulation of inclusions containing lipids and mucopolysaccharides. Further studies show that multiple lysosomal enzymes are present at high levels in the patient's serum but are deficient within their lysosomes.