The relationship between NUP62 and Leigh syndrome spectrum (LSS) was evaluated using the ClinGen Clinical Validity Framework as of December 16, 2020. The NUP62 gene encodes nuclear pore glycoprotein p62, a nuclear pore complex component. The nuclear pore complex spans the nuclear envelope and allows the flow of molecules (proteins, RNA, carbohydrates, lipids and signaling molecules) between the nucleus and cytoplasm.
The NUP62 gene has been associated with infantile bilateral striatal necrosis. However, after extensive literature review, while the reported cases have brain appearances similar to those observed in LSS, additional evidence of mitochondrial and/or biochemical dysfunction was absent in the reported cases. Additionally, there is no experimental evidence to support this gene-disease relationship.
In summary, there is no evidence for a causal role for NUP62 variants in autosomal recessive LSS. This gene-disease association is not supported by experimental evidence and no reports have directly implicated the gene in LSS.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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