Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

TitleDominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Publication TypeJournal Article
Year of Publication2021
AuthorsRickman, OJ, Salter, CG, Gunning, AC, Fasham, J, Voutsina, N, Leslie, JS, McGavin, L, Cross, HE, Posey, JE, Akdemir, ZCoban, Jhangiani, SN, Lupski, JR, Baple, EL, Crosby, AH
JournalParkinsonism Relat Disord
Volume82
Pagination84-86
Date Published2021 Jan
ISSN1873-5126
KeywordsAmish, Humans, Iron Metabolism Disorders, Loss of Function Mutation, Magnetic Resonance Imaging, Membrane Proteins, Mitochondrial Membranes, Mitochondrial Proteins, Neuroaxonal Dystrophies, Pedigree, Protein Isoforms
Abstract

Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
DOI10.1016/j.parkreldis.2020.10.041
Alternate JournalParkinsonism Relat Disord
PubMed ID33260061
Grant ListG1001931 / MRC_ / Medical Research Council / United Kingdom
G1002279 / MRC_ / Medical Research Council / United Kingdom
216279/Z/19/Z / WT_ / Wellcome Trust / United Kingdom
UM1 HG006542 / HG / NHGRI NIH HHS / United States

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