A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella
Yaxian Ma, Yuecheng Yang, Tong Zhang, Daoheng Hu, Yuancun Zhao, Xuancheng Mai, Junxue Ni, Jie Zhang · 2026
Read A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella by Yaxian Ma, Yuecheng Yang, Tong Zhang, Daoheng Hu, Yuancun Zhao, Xuancheng Mai, Junxue Ni, Jie Zhang (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13310501.txt.
Description
Yaxian Ma and co-authors report a hidden gene change behind malformed sperm tails in a 2026 case study. The condition, shortened to MMAF, twists, shortens, or removes sperm tails and causes male infertility. The gene CFAP44 helps build tails, and faults in it are a known cause.
Full exome sequencing of an infertile Chinese man with sperm that could not swim forward found a double dose of a deep intronic CFAP44 change. Family testing confirmed the pattern, and splicing predictions suggested the change disrupts message cutting. Lab splicing assays and RNA checks were run to test that effect. The authors add the variant to the catalog guiding genetic counseling for this condition.
Catalog record
| CREATOR | Yaxian Ma, Yuecheng Yang, Tong Zhang, Daoheng Hu, Yuancun Zhao, Xuancheng Mai, Junxue Ni, Jie Zhang |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33657 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |