Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Spermatogenic failure 5

OMIM:243060
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system


Mutations

Gene SymbolAURKC
Reference transcriptNM_001015878.1
DNA Changec.144delC
A.A. ChangeL49WfsX22
Exon/Intronexon 3
Mutation Typedeletion
ReferenceDieterich 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 SymbolAURKC
Reference transcriptNM_001015878.1
DNA Changec.235A>G
A.A. Changep.Ile79Val
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceDieterich 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 SymbolAURKC
Reference transcriptNM_001015878.1
DNA Changec.144delC
A.A. ChangeL49WfsX22
Exon/Intronexon 3
Mutation Typedeletion
ReferenceEloualid 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.