Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.

doi:10.1016/j.gim.2026.102570

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Article

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026

Higuchi Yujiro, Yoshizaki Kaichi, Nakanishi Kazuki, Yuan Junhui, Hobara Takahiro, Kojima Fumikazu, Hiramatsu Yu, Ando Masahiro, Yoshimura Akiko, Nozuma Satoshi, Sakiyama Yusuke, Hashiguchi Akihiro, Okamoto Yuji, Matsuura Eiji, Yamasaki Ryo, Hashida Hideji, Hisano Tadashi, Okada Junichiro, Hara Taichi, Sakakima Harutoshi, Suda Kojiro, Yoshida Hideki, Yamaguchi Masamitsu, Mitsui Jun, Tsuji Shoji, Takashima Hiroshi

Abstract excerpt

PURPOSE: Despite advances in diagnostics, many inherited peripheral neuropathies remain genetically unexplained. We investigated whether biallelic variants in FAT3 (FAT Atypical Cadherin 3) are implicated in inherited axonal neuropathies. METHODS: We identified biallelic FAT3 variants in three unrelated individuals among 3315 Japanese patients with inherited peripheral neuropathies. Variants were evaluated by...

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PMID: 41937739
DOI: 10.1016/j.gim.2026.102570

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FAT3

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