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

What is already known about this topic? ◦. Biallelic pathogenic variants in CHAT cause congenital myasthenic syndrome (CMS), typically presenting postnatally with episodic apnea and neuromuscular weakness. CHAT encodes choline acetyltransferase, essential for acetylcholine synthesis at the neuromuscular junction, and previously has not been associated with uniformly lethal prenatal phenotypes. What does this study add? ◦. We demonstrate that biallelic CHAT variants can cause severe fetal akinesia resulting in lethal multiple pterygium syndrome, expanding the phenotypic spectrum to include presentation, lethality and supporting inclusion of CHAT in fetal akinesia gene panels.