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©The Author(s) 2022.
World J Clin Cases. Dec 6, 2022; 10(34): 12761-12767
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12761
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12761
Table 2 Bioinformatics software analysis of the PMFBP1 gene
| Gene | Chromosomal location (hg19) | Mutation name | Group frequency in East Asian population | Zygote type | Mutation rating | Related diseases |
| PMFBP1 | chr16:72188109 | NM_031293.3: c.414+1G>T (p.) | 0.00021 | Heterozygous | Probable pathogen | Spermatogenesis Disease Type 31 (618112, AR) |
| PMFBP1 | chr16:72188131 | NM_031293.3: c.393del (p.C132Afs*3) | Not recorded | Heterozygous | Probable pathogen |
- Citation: Deng TQ, Xie YL, Pu JB, Xuan J, Li XM. Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report. World J Clin Cases 2022; 10(34): 12761-12767
- URL: https://www.wjgnet.com/2307-8960/full/v10/i34/12761.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i34.12761