| H01208 | |
| H番号 | H01208 |
| 名称 | 頭部円形精子症 |
| 概要 | 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. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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. |
| リンク | ICD-11: GB04.Y ICD-10: N46 OMIM: 102530 613958 619799 619803 619805 619826 |
| 文献 | PMID:17847006 (SPGF6) 著者 Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S タイトル Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. 雑誌 Am J Hum Genet 81:813-20 (2007) DOI:10.1086/521314 PMID:21397064 (SPGF9) 著者 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 タイトル A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 雑誌 Am J Hum Genet 88:351-61 (2011) DOI:10.1016/j.ajhg.2011.02.007 PMID:31985809 (SPGF66_67_68_69) 著者 Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA タイトル Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. 雑誌 Hum Reprod 35:240-252 (2020) DOI:10.1093/humrep/dez246 PMID:20562896 著者 Liu G, Shi QW, Lu GX タイトル A newly discovered mutation in PICK1 in a human with globozoospermia. 雑誌 Asian J Androl 12:556-60 (2010) DOI:10.1038/aja.2010.47 |