| H01208 | |
| H number | H01208 |
| Name | Globozoospermia; Round-headed spermatozoa |
| Description | Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. |
| Category | Reproductive system disease |
| Network | - |
| Gene | (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disruption of several mouse genes, including GOPC, HRB, and CSNK2A2, results in a phenotype similar to globozoospermia in humans. However, no causative gene mutations have been identified in these orthologues. Recently, a newly discovered mutation in PICK1 in a human with globozoospermia was reported. |
| Other DBs | ICD-11: GB04.Y ICD-10: N46 OMIM: 102530 613958 619799 619803 619805 619826 |
| Reference | PMID:17847006 (SPGF6) AUTHORS Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S TITLE Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. JOURNAL Am J Hum Genet 81:813-20 (2007) DOI:10.1086/521314 PMID:21397064 (SPGF9) AUTHORS 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, Sele B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF TITLE A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. JOURNAL Am J Hum Genet 88:351-61 (2011) DOI:10.1016/j.ajhg.2011.02.007 PMID:31985809 (SPGF66_67_68_69) AUTHORS Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA TITLE Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. JOURNAL Hum Reprod 35:240-252 (2020) DOI:10.1093/humrep/dez246 PMID:20562896 AUTHORS Liu G, Shi QW, Lu GX TITLE A newly discovered mutation in PICK1 in a human with globozoospermia. JOURNAL Asian J Androl 12:556-60 (2010) DOI:10.1038/aja.2010.47 |