A neonate with filamin A gene-associated periventricular nodular heterotopia / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 335-338, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-995106
ABSTRACT
This paper reported a neonate with periventricular nodular heterotopia associated to filamin A ( FLNA) gene mutation. The female patient was born at 29 +6 weeks of gestation to a mother who had intractable seizures and a history of two adverse pregnancy outcomes. Postnatal cranial ultrasound showed multiple hypoechoic masses on the walls of bilateral ventricles, which presented as "sawtooth pattern". MRI revealed gray matter displacement, unclear edge of gray and white matter, wavy bilateral ventricles and multiple nodular signals. Whole exon sequencing showed that the patient carried a maternally-inherited and likely pathogenic heterozygous mutation of chrX153579307 in the FLNA gene (NM_00111 0556; p.Glu2376fsTer9), which caused the periventricular nodular heterotopia in the neonate. The patient was followed up until eight months of age and no convulsion or obvious abnormality in her growth or development was reported.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Perinatal Medicine
Año:
2023
Tipo del documento:
Artículo
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