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Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

 Daniela A. Braun  ;  Markus Schueler  ;  Jan Halbritter  ;  Heon Yung Gee  ;  Jonathan D. Porath  ;  Jennifer A. Lawson  ;  Rannar Airik  ;  Shirlee Shril  ;  Susan J. Allen  ;  Deborah Stein  ;  Adila Al Kindy  ;  Bodo B. Beck  ;  Nurcan Cengiz  ;  hemchand N. Moorani  ;  Fatih Ozaltin  ;  Seema Hashmi  ;  John A. Sayer  ;  Detlef Bockenhauer  ;  Neveen A. Soliman  ;  Edgar A. Otto  ;  Richard P. Lifton  ;  Friedhelm Hildebrandt 
 KIDNEY INTERNATIONAL, Vol.89(2) : 468-475, 2016 
Journal Title
Issue Date
Age of Onset ; Cohort Studies ; DNA Mutational Analysis ; Exome ; Humans ; Kidney Diseases, Cystic/congenital ; Kidney Diseases, Cystic/genetics ; Renal Insufficiency, Chronic/diagnostic imaging ; Renal Insufficiency, Chronic/genetics*
chronic kidney disease ; pediatric nephrology ; genetic kidney disease ; whole exome sequencing ; mutation analysis ; monogenic diseases ; increased renal echogenicity ; nephronophthisis
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, PIAS1, INCENP, and RCOR1) 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.
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1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
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