Spermatogenic failure 5
OMIM:243060Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system
Mutations
| Gene Symbol | AURKC |
|---|---|
| Reference transcript | NM_001015878.1 |
| DNA Change | c.144delC |
| A.A. Change | L49WfsX22 |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, S?le 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 May;39(5):661-5. |
| Gene Symbol | AURKC |
|---|---|
| Reference transcript | NM_001015878.1 |
| DNA Change | c.235A>G |
| A.A. Change | p.Ile79Val |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, S?le B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF.The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet. 2009 Apr 1;18(7):1301-9. |
| Gene Symbol | AURKC |
|---|---|
| Reference transcript | NM_001015878.1 |
| DNA Change | c.144delC |
| A.A. Change | L49WfsX22 |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | 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 Apr;101(4):1086-90. |