Nonsense variation of OTUD5 gene in a fetus with X-linked multiple congenital anomalies- neurodevelopmental syndrome / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 243-245, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-995093
ABSTRACT
We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Perinatal Medicine
Año:
2023
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS