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
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Kidney International, Volume 81, No. 2, Year 2012
Notification
URL copied to clipboard!
Description
Congenital abnormalities of the kidney and urinary tract (CAKUT) are the most frequent cause of chronic kidney disease in children, accounting for about half of all cases. Although many forms of CAKUT are likely caused by single-gene defects, mutations in only a few genes have been identified. In order to detect new contributing genes we pooled DNA from 20 individuals to amplify all 313 exons of 30 CAKUT candidate genes by PCR analysis and massively parallel exon resequencing. Mutation carriers were identified by Sanger sequencing. We repeated the analysis with 20 new patients to give a total of 29 with unilateral renal agenesis and 11 with other CAKUT phenotypes. Five heterozygous missense mutations were detected in 2 candidate genes (4 mutations in FRAS1 and 1 in FREM2) not previously implicated in non-syndromic CAKUT in humans. All of these mutations were absent from 96 healthy control individuals and had a PolyPhen score over 1.4, predicting possible damaging effects of the mutation on protein function. Recessive truncating mutations in FRAS1 and FREM2 were known to cause Fraser syndrome in humans and mice; however, a phenotype in heterozygous carriers has not been described. Thus, heterozygous missense mutations in FRAS1 and FREM2 cause non-syndromic CAKUT in humans. © 2012 International Society of Nephrology.
Authors & Co-Authors
Saisawat, Pawaree
United States, Ann Arbor
University of Michigan, Ann Arbor
Tasić, Velibor B.
North Macedonia, Skopje
Clinic for Children's Diseases Skopje
Vega-Warner, Virginia
United States, Ann Arbor
University of Michigan, Ann Arbor
Kehinde, Elijah O.
Kuwait, Kuwait City
Kuwait University
Günther, Barbara
Austria, Linz
General Women and Children Hospital
Airik, Rannar
United States, Ann Arbor
University of Michigan, Ann Arbor
Innis, Jeffrey W.
United States, Ann Arbor
University of Michigan, Ann Arbor
Hoskins, Bethan E.
United States, Ann Arbor
University of Michigan, Ann Arbor
Hoefele, Julia
United States, Ann Arbor
University of Michigan, Ann Arbor
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Ann Arbor
Michigan Medicine
Statistics
Citations: 80
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1038/ki.2011.315
ISSN:
00852538
e-ISSN:
15231755
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases