Analysis of a fetus with multiple malformations due to a hemizygous variant of FANCB gene / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 1257-1262, 2023.
Article
en Zh
| WPRIM
| ID: wpr-1009285
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with limb abnormality and cardiac malformation.@*METHODS@#Clinical data of a fetus diagnosed at the Shandong Provincial Maternal and Child Health Care Hospital on April 30th, 2021 was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. X-inactivation analysis was carried out for the female members of its family.@*RESULTS@#The fetus was found to have meningoencephalocele, absence of bilateral radii, cleft lip, abnormal great arteries, and single umbilical artery at the gestational age of 11+ weeks. Sequencing revealed that the fetus has harbored a hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene, which was maternally inherited. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4). X-inactivation analysis has revealed complete skewed X-inactivation in the pregnant woman and her mother.@*CONCLUSION@#The hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene probably underlay the multiple malformations in this fetus.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Anomalías Múltiples
/
Labio Leporino
/
Edad Gestacional
/
Proteínas del Grupo de Complementación de la Anemia de Fanconi
/
Feto
/
Madres
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2023
Tipo del documento:
Article