Universität zu Köln

Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A. ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm (2016). Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int., 89 (2). S. 468 - 476. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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Abstract

Chronically increased echogenicity on renal ultrasound is a sensitive early finding of chronic kidney disease that can be detected before manifestation of other symptoms. Increased echogenicity, however, is not specific for a certain etiology of chronic kidney disease. Here, we, performed whole exome sequencing in 79 consanguineous or familial cases of suspected nephronophthisis in order to determine the underlying molecular disease cause. In 50 cases, there was a causative mutation in a known monogenic disease gene. In 32 of these cases whole exome sequencing confirmed the diagnosis of a nephronophthisis-related ciliopathy. In 8 cases it revealed the diagnosis of a renal tubulopathy. The remaining 10 cases were identified as Alport syndrome (4), autosomal-recessive polycystic kidney disease (2), congenital anomalies of the kidney and urinary tract (3), and APECED syndrome (1). In 5 families, in whom mutations in known monogenic genes were excluded, we applied homozygosity mapping for variant filtering and identified 5 novel candidate genes (RBM48, FAM186B, PIASI, INCENP, and RCORI) for renal ciliopathies. Thus, whole exome sequencing allows the detection of the causative mutation in 2/3 of affected individuals, thereby presenting the etiologic diagnosis, and allows identification of novel candidate genes.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Braun, Daniela A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schueler, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Halbritter, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Gee, Heon Yung UNSPECIFIED orcid.org/0000-0002-8741-6177 UNSPECIFIED Porath, Jonathan D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lawson, Jennifer A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Airik, Rannar UNSPECIFIED UNSPECIFIED UNSPECIFIED Shril, Shirlee UNSPECIFIED UNSPECIFIED UNSPECIFIED Allen, Susan J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stein, Deborah UNSPECIFIED UNSPECIFIED UNSPECIFIED Al Kindy, Adila UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cengiz, Nurcan UNSPECIFIED UNSPECIFIED UNSPECIFIED Moorani, Khemchand N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ozaltin, Fatih UNSPECIFIED UNSPECIFIED UNSPECIFIED Hashmi, Seema UNSPECIFIED UNSPECIFIED UNSPECIFIED Sayer, John A. UNSPECIFIED orcid.org/0000-0003-1881-3782 UNSPECIFIED Bockenhauer, Detlef UNSPECIFIED orcid.org/0000-0001-5878-941X UNSPECIFIED Soliman, Neveen A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Otto, Edgar A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lifton, Richard P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hildebrandt, Friedhelm UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-285674
DOI:	10.1038/ki.2015.317
Journal or Publication Title:	Kidney Int.
Volume:	89
Number:	2
Page Range:	S. 468 - 476
Date:	2016
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	1523-1755
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LINKAGE ANALYSIS; NEPHRONOPHTHISIS; DISEASE; MECHANISMS; CILIOPATHY; CILIARY; INVS; NEK8 Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28567