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

11 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",

issn = "1353-8020",

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TY - JOUR

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 - https://www.scopus.com/pages/publications/85097433331

UR - https://www.scopus.com/pages/publications/85097433331#tab=citedBy

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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