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

Olivia J Rickman; Claire G Salter; Adam C Gunning; James Fasham; Nikol Voutsina; Joseph S Leslie; Lucy McGavin; Harold E Cross; Jennifer E Posey; Zeynep Coban Akdemir; Shalini N Jhangiani; James R Lupski; Emma L Baple; Andrew H Crosby

doi:10.1016/j.parkreldis.2020.10.041

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

Parkinsonism Relat Disord. 2021 Jan:82:84-86. doi: 10.1016/j.parkreldis.2020.10.041. Epub 2020 Nov 11.

Authors

Affiliations

¹ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
² RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK.
³ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK.
⁴ Department of Radiology, Derriford Hospital, Plymouth, UK.
⁵ University of Arizona College of Medicine, Tucson, AZ, USA.
⁶ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030.
⁷ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030.
⁸ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA, 77030; Texas Children's Hospital, Houston, TX, USA, 77030.
⁹ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK. Electronic address: [email protected].
¹⁰ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK. Electronic address: [email protected].

PMID: 33260061
DOI: 10.1016/j.parkreldis.2020.10.041

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.

Keywords: C19orf12; MPAN; NBIA.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Amish
Humans
Iron Metabolism Disorders / diagnosis
Iron Metabolism Disorders / genetics*
Iron Metabolism Disorders / pathology
Iron Metabolism Disorders / physiopathology
Loss of Function Mutation
Magnetic Resonance Imaging
Membrane Proteins / genetics*
Mitochondrial Membranes / metabolism*
Mitochondrial Proteins / genetics*
Neuroaxonal Dystrophies / diagnosis
Neuroaxonal Dystrophies / genetics*
Neuroaxonal Dystrophies / pathology
Neuroaxonal Dystrophies / physiopathology
Pedigree
Protein Isoforms

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

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Abstract

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