Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract
A Vivante, DY Hwang, S Kohl, J Chen… - Journal of the …, 2017 - journals.lww.com
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of
CKD in children, featuring a broad variety of malformations. A monogenic cause can be
detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT
frequently does not indicate specific genes to be examined. To determine the likelihood of
detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed
individuals with CAKUT from 33 different consanguineous families. Using homozygosity …
CKD in children, featuring a broad variety of malformations. A monogenic cause can be
detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT
frequently does not indicate specific genes to be examined. To determine the likelihood of
detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed
individuals with CAKUT from 33 different consanguineous families. Using homozygosity …