OMIM: 612300Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CD59 |
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| Dna Change: | c.266G>A |
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| Protein Change: | p.Cys89Tyr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_203330.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Libya | Jews | NA | 4 patients | NA | Nevo Y et al., 2013Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O, . CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.. Blood. 2013; 121(1):129-35 |
References
Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O, CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.Blood. 2013; 121(1):129-35