%0 Case Reports
%T Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.
%A Martínez-Diago C
%A Mademont-Soler I
%A Bonmatí A
%A Rodo C
%A Alberch A
%A Obon M
%A Fuertes B
%A Maroto A
%J Prenat Diagn
%V 44
%N 8
%D 2024 07 26
%M 38666792
%F 3.242
%R 10.1002/pd.6568
%X We present a case of fetal akinesia deformation sequence due to nemaline myopathy (NM). In addition to the muscle manifestations, prenatal observations included an enlarged subarachnoid space and delayed cortical development. Trio whole-exome sequencing revealed a de novo novel pathogenic variant in the ACTA1 gene, which encodes skeletal muscle alpha-actin. Our findings suggest that brain abnormalities can occur prenatally in NM and support the potential role of skeletal muscle alpha-actin in the central nervous system.