{Reference Type}: Case Reports
{Title}: Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.
{Author}: Martínez-Diago C;Mademont-Soler I;Bonmatí A;Rodo C;Alberch A;Obon M;Fuertes B;Maroto A;
{Journal}: Prenat Diagn
{Volume}: 44
{Issue}: 8
{Year}: 2024 07 26
{Factor}: 3.242
{DOI}: 10.1002/pd.6568
{Abstract}: 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.