The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Key Points

• To investigate the underlying genetic cause of lethal fetal akinesia syndrome in affected fetuses.
• Genetic analysis performed on fetuses from Xhosa South Africa to identify mutations.
• Focus on the CHAT gene for potential pathogenic variants.
• Identification of the same homozygous pathogenic variant in all three fetuses.
• Demonstrated genetic inheritance of the CHAT mutation causing the syndrome.