Spermatogenic failure 9
OMIM:613958Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system
Mutations
| Gene Symbol | DPY19L2 |
|---|---|
| DNA Change | 200 kb deletion  |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, S?le B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF.A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. |
Variant not named according to HGVS recommendationsPolymorphisms
| Gene symbol | PRM2 | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_002762.2 | ||||||||||||||||||||||||||||||
| DNA Change | c.381+102C | ||||||||||||||||||||||||||||||
| A.A. Change | |||||||||||||||||||||||||||||||
| Exon/Intron | Intron | ||||||||||||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||||||||||||
| Cases | 135 Infertile | ||||||||||||||||||||||||||||||
| Controls | 160 Fertile | ||||||||||||||||||||||||||||||
| Frequency |
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| Reference | Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K.Mutations in the protamine locus: association with spermatogenic failure? Mol Hum Reprod. 2009 Nov;15(11):733-8. |
Variant not named according to HGVS recommendations