A Splice Site Mutation Associated with Congenital CD59 Deficiency

Jiani N. Chai, Abul Kalam Azad, Kevin Kuan, Xiaoling Guo, Yanhua Wang

Research output: Contribution to journalArticlepeer-review


Congenital CD59 deficiency is a recently described rare autosomal recessive disease associated with CD59 gene mutations that lead to deficient or dysfunctional CD59 protein on the cell surface. The disease is characterized by the early onset of chronic hemolysis, relapsing peripheral demyelinating neuropathy, and recurrent ischemic strokes. To date, there are 14 patients with 4 exon mutations reported globally. A young boy with early onset peripheral neuropathy and atypical hemolytic uremic syndrome is presented. Next-generation sequencing (NGS) identified a homozygous splice site variant in intron 1 of the CD59 gene (c.67 + 1G > T). This variant alters a consensus donor splicing site. Quantitative reverse transcription PCR showed that CD59 mRNA expression in the patient is significantly reduced to 0.017-fold compared to the controls. Flow cytometry showed the lack of CD59 protein on the surface of the patient’s red blood cells. This variant is the first splice site mutation reported to be associated with congenital CD59 deficiency.

Original languageEnglish (US)
Pages (from-to)172-178
Number of pages7
JournalHematology Reports
Issue number2
StatePublished - Jun 2022


  • CD59
  • atypical hemolytic uremic syndrome
  • congenital CD59 deficiency
  • next-generation sequencing (NGS)
  • splice site mutation

ASJC Scopus subject areas

  • Hematology


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