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Abstract: TH-PO742

Enhance Utility of Family-Centered Diagnostic Exome Sequencing in Children with CKD: A Comparison of 497 Families in Trios and Singleton

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Rao, Jia, Children's Hospital of Fudan university, Shanghai, China
  • Shen, Qian, Children's Hospital of Fudan university, Shanghai, China
  • Xu, Hong, Children's Hospital of Fudan university, Shanghai, China

Group or Team Name

  • Chinese Children Genetic kidney Disease Database (CCGKDD)

The utility of family centered whole exome sequencing (WES) for the diagnosis of children with chronic kidney disease (CKD) has not been adequately studied.


Patients with CKD identified according to KDIGO guidelines were grouped into five phenotype categories-nephrosis, nephritis, proteinuria(non-nephrotic), congenital abnormalities of the kidney and urinary(CAKUT), CKD2-5 stage of unknown cause and miscellaneous. WES data from Chinese Children Genetic kidney Disease Database (CCGKDD) including 10 different renal centers in CHINA were analyzed. Singleton WES was performed as a first-tier sequencing test. Family-based exome sequencing included trio whole exome sequencing followed by family inheritance−based model filtering, comprehensive medical review, familial segregation analysis, and analysis of novel genes.


Of 497 enrolled children with CKD, 330 received genetic diagnosis through singleton WES compared with 167 who underwent trios-WES. A molecular diagnosis was reported for 171 families (34.4%) with 78.3% of the diagnostic mutations not previously reported. A positive or likely positive result in a known disease causing gene was identified in 29.0%(89/330) of patients in singleton vs. 49.1% (82/167) of families in trios. Genetic diagnosis rates for each phenotypic category were 33.3% for nephrosis group, 26.6% for nephritis group, 43.4% for proteinuria group, 349.3% for CAKUT group, 36.6% for CKD 2-5 stage of unknown cause group and 32.5% for miscellaneous group (Fig.1). Novel gene findings were identified in 4.2%(4/167) of patients in trios.


The multicenter cohort of WES cases demonstrate the utility of family-based exome sequencing and analysis to obtain the highest reported detection rate in children with CKD.

Fig.1 Genetic diagnosis rates for each phenotypic category in children with CKD comparing in singleton and trios-WES (Singleton: inner ring;Trios: outer ring)