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Genetics

Hidden intronic mutations in DGKE are causative of aHUS

Nature Reviews Nephrology volume 11, page 316 (2015)Cite this article

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Recessive mutations in diacylglycerol kinase ɛ (DGKE) can cause atypical haemolytic uraemic syndrome (aHUS)—a common cause of acquired acute renal failure in children. New research by Giuseppe Remuzzi and colleagues extends this association, with the identification of a novel aHUS-causative intronic mutation in DGKE located well beyond the exon–intron boundaries.

The researchers performed whole-exome and whole-genome sequencing in two families (one from Italy and one from the USA) with infantile recessive familial aHUS of unknown genetic origin. “Analysis of the data using conventional variant filtering parameters did not reveal any obvious candidate mutations in the Italian family, and only a heterozygous nonsense DGKE mutation in the US family that alone could not explain the disease,” says researcher Marina Noris. “Given that deep intronic mutations can result in abnormal splicing, we examined the intronic variants in the whole-exome sequencing data of the Italian family.”

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References

  1. Mele, C. et al. Characterization of a new DGKE intronic mutation in genetically unsolved cases of familial aytpical hemolytic uremic syndrome. Clin. J. Am. Soc. Nephrol. 10.2215/CJN.08520814

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Authors
  1. Jessica K. Edwards
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Edwards, J. Hidden intronic mutations in DGKE are causative of aHUS. Nat Rev Nephrol 11, 316 (2015). https://doi.org/10.1038/nrneph.2015.68

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  • DOI: https://doi.org/10.1038/nrneph.2015.68

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