Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Key Points

• To investigate the impact of a synonymous ADSL variant on splicing and its implications for prenatal severity of deficiency.
• Analyzed genetic variants in subjects with severe prenatal symptoms.
• Conducted splicing assays to assess variant effects.
• Performed clinical evaluations and genetic screenings.
• Identified a synonymous ADSL variant associated with aberrant splicing.
• Confirmed severe prenatal presentation due to the deficiency.
• Provided evidence linking genetic alterations to clinical outcomes.