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Article

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Human molecular genetics - 3 Mar 2022

Weisschuh Nicole, Marino Valerio, Schäferhoff Karin, Richter Paul, Park Joohyun, Haack Tobias B, Dell'Orco Daniele

Abstract excerpt

Exonic (i.e. coding) variants in genes associated with disease can exert pathogenic effects both at the protein and mRNA level, either by altering the amino acid sequence or by affecting pre-mRNA splicing. The latter is often neglected due to the lack of RNA analyses in genetic diagnostic testing. In this study we considered both pathomechanisms and performed a comprehensive analysis of nine exonic nucleotide...

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Identifiers

PMID: 34559197
DOI: 10.1093/hmg/ddab286
PMCID: PMC8895747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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