Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Kidney International, Volume 85, No. 6, Year 2014
Notification
URL copied to clipboard!
Description
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were vesicoureteral reflux in 288 patients, renal hypodysplasia in 120 patients, and unilateral renal agenesis in 90 patients. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children. © 2013 International Society of Nephrology.
Authors & Co-Authors
Hwang, Daw Yang
United States, Boston
Boston Children's Hospital
Taiwan, Kaohsiung
Kaohsiung Medical University Chung-ho Memorial Hospital
Dworschak, Gabriel Clemens
United States, Boston
Boston Children's Hospital
Germany, Bonn
Universität Bonn
Kohl, Stefan
United States, Boston
Boston Children's Hospital
Saisawat, Pawaree
United States, Ann Arbor
University of Michigan, Ann Arbor
Vivante, Asaf
United States, Boston
Boston Children's Hospital
Hilger, Alina Christine
Germany, Bonn
Universität Bonn
Reutter, Heiko Martin
Germany, Bonn
Universität Bonn
Soliman Elshakhs, Neveen A.
Egypt, Cairo
Faculty of Medicine
Egypt, Cairo
Egyptian Group for Orphan Renal Diseases Egord
Bogdanovíć, Radovan M.
Serbia, Belgrade
Belgrade University School of Medicine
Kehinde, Elijah O.
Kuwait, Kuwait City
Kuwait University
Tasić, Velibor B.
North Macedonia, Skopje
Clinic for Children's Diseases Skopje
Hildebrandt, Friedhelm
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 13
Authors: 12
Affiliations: 10
Identifiers
Doi:
10.1038/ki.2013.508
ISSN:
00852538
e-ISSN:
15231755
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study
Study Approach
Qualitative