OMIM: 243060Inheritance: Autosomal recessive
Classification: Diseases of the genitourinary system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | AURKC |
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| Dna Change: | c.144delC |
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| Protein Change: | p.Leu49TrpfsX23 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 3 |
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| Transcript: | NM_001015878.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | NA | 250-650 years ago (10-26 generations) | Ben Khelifa M et al., 2012Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF, . Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.. Hum. Reprod.. 2012; 27(11):3337-46 |
| Monaco | NA | Rabat | 6 patients | NA | Dieterich K et al., 2007Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sèle B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF, . Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.. Nat. Genet.. 2007; 39(5):661-5 |
| Morocco | NA | NA | NA | 250-650 years ago (10-26 generations) | Ben Khelifa M et al., 2012Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF, . Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.. Hum. Reprod.. 2012; 27(11):3337-46 |
| Morocco | NA | NA | 2.14% (allele frequency) | NA | Eloualid A et al., 2014Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, McElreavey K, . Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.. Fertil. Steril.. 2014; 101(4):1086-90 |
| Tunisia | NA | NA | NA | 250-650 years ago (10-26 generations) | Ben Khelifa M et al., 2012Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF, . Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.. Hum. Reprod.. 2012; 27(11):3337-46 |
| Gene/Locus: | AURKC |
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| Dna Change: | c.744C>G |
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| Protein Change: | p.Tyr248X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 6 |
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| Transcript: | NM_001015878.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | NA | 925-1325 years ago (37-53 generations) | Ben Khelifa M et al., 2012Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF, . Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.. Hum. Reprod.. 2012; 27(11):3337-46 |
References
Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF, Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.Hum. Reprod.. 2012; 27(11):3337-46
Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sèle B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF, Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.Nat. Genet.. 2007; 39(5):661-5
Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, McElreavey K, Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.Fertil. Steril.. 2014; 101(4):1086-90