Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.
Prenat Diagn
; 44(8): 996-998, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38666792
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Actinas
/
Miopatías Nemalínicas
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2024
Tipo del documento:
Article
País de afiliación:
España