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

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

Ophthalmology and Vision Sciences

Research output: Contribution to journal › Letter › peer-review

9 Scopus citations

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.

Original language	English (US)
Pages (from-to)	84-86
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	82
DOIs	https://doi.org/10.1016/j.parkreldis.2020.10.041
State	Published - Jan 2021

Keywords

C19orf12
MPAN
NBIA

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2020.10.041

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Rickman, O. J., Salter, C. G., Gunning, A. C., Fasham, J., Voutsina, N., Leslie, J. S., McGavin, L., Cross, H. E., Posey, J. E., Akdemir, Z. C., Jhangiani, S. N., Lupski, J. R., Baple, E. L., & Crosby, A. H. (2021). Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism and Related Disorders, 82, 84-86. https://doi.org/10.1016/j.parkreldis.2020.10.041

Rickman, OJ, Salter, CG, Gunning, AC, Fasham, J, Voutsina, N, Leslie, JS, McGavin, L, Cross, HE, Posey, JE, Akdemir, ZC, Jhangiani, SN, Lupski, JR, Baple, EL & Crosby, AH 2021, 'Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform', Parkinsonism and Related Disorders, vol. 82, pp. 84-86. https://doi.org/10.1016/j.parkreldis.2020.10.041

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

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",

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

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2021",

month = jan,

doi = "10.1016/j.parkreldis.2020.10.041",

language = "English (US)",

volume = "82",

pages = "84--86",

journal = "Parkinsonism and Related Disorders",

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T1 - Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

AU - Rickman, Olivia J.

AU - Salter, Claire G.

AU - Gunning, Adam C.

AU - Fasham, James

AU - Voutsina, Nikol

AU - Leslie, Joseph S.

AU - McGavin, Lucy

AU - Cross, Harold E.

AU - Posey, Jennifer E.

AU - Akdemir, Zeynep Coban

AU - Jhangiani, Shalini N.

AU - Lupski, James R.

AU - Baple, Emma L.

AU - Crosby, Andrew H.

PY - 2021/1

Y1 - 2021/1

N2 - 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.

AB - 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.

KW - C19orf12

KW - MPAN

KW - NBIA

UR - http://www.scopus.com/inward/record.url?scp=85097433331&partnerID=8YFLogxK

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U2 - 10.1016/j.parkreldis.2020.10.041

DO - 10.1016/j.parkreldis.2020.10.041

M3 - Letter

C2 - 33260061

AN - SCOPUS:85097433331

SN - 1353-8020

VL - 82

SP - 84

EP - 86

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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