| Geno
|
Mag
|
Summary
|
| (-;-)
|
8
|
inherited CD59 deficiency
|
| (-;T)
|
4
|
unaffected carrier of an inherited CD59 deficiency allele
|
| (A;A)
|
8
|
inherited C59 deficiency
|
| (A;T)
|
4
|
unaffected carrier of an inherited C59 deficiency allele
|
| (T;T)
|
0
|
common in clinvar
|
rs587777149 is a SNP in the CD59 gene. Both a missense mutation and a deletion mutation have been observed at this SNP, and both are reported as recessive mutations.
The deletion mutation was originally observed in a 7 month old baby with inherited CD59 deficiency, who went on to develop hemolytic anemia with progressive neurologic deterioration. She improved after treatment with the anti-C5 monoclonal antibody eculizumab. Her parents were both unaffected heterozygotes.[PMID 24382084] See also OMIM 107271.0003
The missense mutation consists of a T>A change (plus strand orientation). This change was found in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis, all with onset in infancy. Heterozygotes were unaffected.[PMID 25716358]
