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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

Jyoti Sharma1, Valentine Lobo1, Jyoti Singhal1, Siddharth Anand2, Sandeep Kadam3, Shatakshi Ranade2, Priyanka Gangodkar2, Karthik Ganesan4, Nikhil Phadke5, Meenal Agarwal5 
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,
India

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.

How to cite this article:
Sharma J, Lobo V, Singhal J, Anand S, Kadam S, Ranade S, Gangodkar P, Ganesan K, Phadke N, Agarwal M. Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome.Indian J Nephrol 2021;31:182-186

How to cite this URL:
Sharma J, Lobo V, Singhal J, Anand S, Kadam S, Ranade S, Gangodkar P, Ganesan K, Phadke N, Agarwal M. Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome. Indian J Nephrol [serial online] 2021 [cited 2021 Dec 6 ];31:182-186
Available from: https://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=2;spage=182;epage=186;aulast=Sharma;type=0