Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 856-859, 2018.
Article
en Zh
| WPRIM
| ID: wpr-775820
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).@*METHODS@#WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks.@*RESULTS@#Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies.@*CONCLUSION@#The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Patología
/
Sistema Urinario
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Anomalías Urogenitales
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Feto
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Exoma
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Secuenciación del Exoma
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Genética
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Riñón
Límite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Article