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 CASE REPORT
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,
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.IJN_336_19

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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.






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Indian Journal of Nephrology
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Online since 20th Sept '07