Genetic Screening of Patients With Inherited Fanconi Syndrome
Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Shingo Ishimori, Shinya Asato, Akihiro Fukuda, Shun Hashimoto, Tsubasa Murase, Koji Nagatani, Izaya Nakaya, Takayuki Okamoto, Shunsuke Takayan · 2026
Read Genetic Screening of Patients With Inherited Fanconi Syndrome by Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Shingo Ishimori, Shinya Asato, Akihiro Fukuda, Shun Hashimoto, Tsubasa Murase, Koji Nagatani, Izaya Nakaya, Takayuki Okamoto, Shunsuke Takayan (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/pmc-13251489.txt.
Description
Yuta Inoki and a large team of colleagues genetically screened families with inherited Fanconi syndrome, a kidney tubule disorder. The syndrome's gene spectrum is incompletely mapped, and a recently recognized gene, GATM, had never been assessed systematically. The retrospective study covered twenty families who had targeted panel sequencing between twenty sixteen and twenty twenty-four. Fourteen index patients were children and six were adults. Published cases were reviewed alongside.
Disease-causing variants turned up in thirteen of twenty index cases. GATM was the commonest culprit, with seven cases, four carrying entirely new variants. Five other genes accounted for the rest. Adults were diagnosed genetically more often than children here. The twenty twenty-six results argue for broad panel testing and sharpen expectations for kidney prognosis by gene.
Catalog record
| CREATOR | Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Shingo Ishimori, Shinya Asato, Akihiro Fukuda, Shun Hashimoto, Tsubasa Murase, Koji Nagatani, Izaya Nakaya, Takayuki Okamoto, Shunsuke Takayan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 36 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |