E-resources
-
Connaughton, Dervla M.; Kennedy, Claire; Shril, Shirlee; Mann, Nina; Murray, Susan L.; Williams, Patrick A.; Conlon, Eoin; Nakayama, Makiko; van der Ven, Amelie T.; Ityel, Hadas; Kause, Franziska; Kolvenbach, Caroline M.; Dai, Rufeng; Vivante, Asaf; Braun, Daniela A.; Schneider, Ronen; Kitzler, Thomas M.; Moloney, Brona; Moran, Conor P.; Smyth, John S.; Kennedy, Alan; Benson, Katherine; Stapleton, Caragh; Denton, Mark; Magee, Colm; O’Seaghdha, Conall M.; Plant, William D.; Griffin, Matthew D.; Awan, Atif; Sweeney, Clodagh; Mane, Shrikant M.; Lifton, Richard P.; Griffin, Brenda; Leavey, Sean; Casserly, Liam; de Freitas, Declan G.; Holian, John; Dorman, Anthony; Doyle, Brendan; Lavin, Peter J.; Little, Mark A.; Conlon, Peter J.; Hildebrandt, Friedhelm
Kidney international, 04/2019, Volume: 95, Issue: 4Journal Article
Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes among adults with CKD has been less extensively studied. To determine the likelihood of detecting monogenic causes of CKD in adults presenting to nephrology services in Ireland, we conducted whole exome sequencing (WES) in a multi-centre cohort of 114 families including 138 affected individuals with CKD. Affected adults were recruited from 78 families with a positive family history, 16 families with extra-renal features, and 20 families with neither a family history nor extra-renal features. We detected a pathogenic mutation in a known CKD gene in 42 of 114 families (37%). A monogenic cause was identified in 36% of affected families with a positive family history of CKD, 69% of those with extra-renal features, and only 15% of those without a family history or extra-renal features. There was no difference in the rate of genetic diagnosis in individuals with childhood versus adult onset CKD. Among the 42 families in whom a monogenic cause was identified, WES confirmed the clinical diagnosis in 17 (40%), corrected the clinical diagnosis in 9 (22%), and established a diagnosis for the first time in 16 families referred with CKD of unknown etiology (38%). In this multi-centre study of adults with CKD, a molecular genetic diagnosis was established in over one-third of families. In the evolving era of precision medicine, WES may be an important tool to identify the cause of CKD in adults. Display omitted
Author
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.