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Article

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Journal of human genetics - 1 Apr 2026

Ozaki Atsuhiro, Sakamoto Masamune, Kumada Satoko, Hamada Keisuke, Ogata Kazuhiro, Ikezawa Jun, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Hamanaka Kohei, Fujita Atsushi, Miyatake Satoko, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

Tenascin-R (TNR) is an extracellular matrix glycoprotein that is essential for the formation of perineuronal nets in the central nervous system and is critical for neurite outgrowth, synaptic plasticity, and neural stem cell proliferation and differentiation. Biallelic TNR variants were reported to cause neurodevelopmental disorders with developmental delay, hypotonia, spasticity, and a variety of motor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41233622
DOI: 10.1038/s10038-025-01431-0

Genes

TNR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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