Indian Journal of Nephrology About us |  Subscription |  e-Alerts  | Feedback | Login   
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size
 Home | Current Issue | Archives| Ahead of print | Search |Instructions |  Editorial Board  

Users Online:1103

Official publication of the Indian Society of Nephrology
 ~   Next article
 ~   Previous article
 ~   Table of Contents

 ~   Similar in PUBMED
 ~  Search Pubmed for
 ~  Search in Google Scholar for
 ~Related articles
 ~   Citation Manager
 ~   Access Statistics
 ~   Reader Comments
 ~   Email Alert *
 ~   Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded82    
    Comments [Add]    

Recommend this journal


Year : 2021  |  Volume : 31  |  Issue : 2  |  Page : 182-186

Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome

1 Nephrology Unit, King Edward Memorial Hospital, India
2 GenePath Diagnostics India Pvt. Ltd., 1260/B, J M Road, Pune, India
3 Paeditrics Department, King Edward Memorial Hospital, Pune, India
4 GenePath Diagnostics Inc. Ann Arbor, Michigan, USA
5 GenePath Diagnostics India Pvt. Ltd., 1260/B, J M Road, Pune; I-SHARE Foundation, 1260/B, J M Road, Pune, India

Correspondence Address:
Dr. Meenal Agarwal
GenePath Diagnostics India Private limited, Pune, and I-SHARE Foundation, 1260/B, J M Road, Pune,
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_336_19

Rights and Permissions

Atypical haemolytic uremic syndrome (aHUS) is a clinically and genetically heterogeneous condition caused by a complex interplay between genomic susceptibility factors and environmental influences. Pathogenic variants in the DGKE gene are recently identified in cases with infantile-onset autosomal recessive aHUS. The presence of low serum C3 levels, however, has rarely been described in cases of DGKE-associated aHUS. Molecular genetic testing was performed by a commercial next-generation sequencing (NGS) panel as well and by an in-house developed targeted NGS for DGKE gene. Copy number variations (CNVs) were computed from NGS data by calculating a normalised copy number ratio of aligned number of reads at targeted genomic regions against multiple reference regions of the same sample and multiple controls. We report here two such novel clinically relevant variants (c.727_730delTTGT and c.251_259delGCGCCTTC) in the DGKE gene, in two families of infantile aHUS with low serum C3 levels.


Print this article     Email this article

Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07