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Article

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Brain : a journal of neurology - 4 Sept 2021

Dong Hai-Lin, Ma Yin, Yu Hao, Wei Qiao, Li Jia-Qi, Liu Gong-Lu, Li Hong-Fu, Chen Lei, Chen Dian-Fu, Bai Ge, Wu Zhi-Ying

Abstract excerpt

Sensory neuronopathies are a rare and distinct subgroup of peripheral neuropathies, characterized by degeneration of the dorsal root ganglia neurons. About 50% of sensory neuronopathies are idiopathic and genetic causes remain to be clarified. Through a combination of homozygosity mapping and whole exome sequencing, we linked an autosomal recessive sensory neuronopathy to pathogenic variants in the COX20 gene. We...

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Source

Identifiers

PMID: 33751098
DOI: 10.1093/brain/awab135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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