The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
CLN
NCL
batten disease
gene
lysosomal disease
mutation
neuronal ceroid lipofuscinosis
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
05
08
2021
accepted:
20
09
2021
entrez:
4
11
2021
pubmed:
5
11
2021
medline:
5
11
2021
Statut:
epublish
Résumé
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the first causative genes, more than 530 mutations have been identified across 13 genes in cases diagnosed with NCL. These genes encode a variety of proteins whose functions have not been fully defined; most are lysosomal enzymes, or transmembrane proteins of the lysosome or other organelles. Many mutations in these genes are associated with a typical NCL disease phenotype. However, increasing numbers of variant disease phenotypes are being described, affecting age of onset, severity or progression, and including some distinct clinical phenotypes. This data is collated by the NCL Mutation Database which allows analysis from many perspectives. This article will summarise and interpret current knowledge and understanding of their genetic basis and phenotypic heterogeneity.
Identifiants
pubmed: 34733232
doi: 10.3389/fneur.2021.754045
pmc: PMC8558747
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
754045Informations de copyright
Copyright © 2021 Gardner and Mole.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Am J Hum Genet. 2012 Jul 13;91(1):202-8
pubmed: 22748208
iScience. 2020 Dec 31;24(2):102020
pubmed: 33532713
Cell. 2001 Jan 26;104(2):205-15
pubmed: 11207362
J Neurol Neurosurg Psychiatry. 1990 Dec;53(12):1063-7
pubmed: 2292699
Am J Hum Genet. 2006 Jun;78(6):988-98
pubmed: 16685649
Lancet Child Adolesc Health. 2018 Aug;2(8):582-590
pubmed: 30119717
Ann Neurol. 2018 Nov;84(5):766-780
pubmed: 30295347
Hum Mutat. 2019 Nov;40(11):1924-1938
pubmed: 31283065
Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80
pubmed: 20679209
Hum Genet. 2014 Mar;133(3):331-45
pubmed: 24154662
Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9
pubmed: 16950870
Hum Mol Genet. 2013 Apr 1;22(7):1417-23
pubmed: 23297359
J Neurol. 2012 Dec;259(12):2590-8
pubmed: 22638565
Neurology. 2005 Jul 26;65(2):275-9
pubmed: 16043799
Am J Hum Genet. 2002 Feb;70(2):537-42
pubmed: 11727201
Am J Hum Genet. 2011 May 13;88(5):566-73
pubmed: 21549341
Neurogenetics. 2005 Sep;6(3):107-26
pubmed: 15965709
Am J Pathol. 2010 Jul;177(1):311-24
pubmed: 20522652
Neurology. 2011 Nov 15;77(20):1801-7
pubmed: 22013180
Am J Hum Genet. 1995 Mar;56(3):654-62
pubmed: 7887419
Ann Neurol. 2007 Jun;61(6):579-86
pubmed: 17455289
Acta Neuropathol. 2014;127(6):845-60
pubmed: 24619111
Sci Transl Med. 2017 Apr 12;9(385):
pubmed: 28404863
Hum Mol Genet. 2013 May 15;22(10):2067-82
pubmed: 23393156
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2242-55
pubmed: 25962910
J Clin Pathol. 2005 Dec;58(12):1305-10
pubmed: 16311352
Hum Mol Genet. 2017 Dec 15;26(24):4861-4872
pubmed: 29036611
Ophthalmology. 2015 Jan;122(1):170-9
pubmed: 25227500
Hum Mutat. 2012 Jan;33(1):42-63
pubmed: 21990111
Brain Dev. 2017 Feb;39(2):182-183
pubmed: 27639779
Am J Hum Genet. 2020 Dec 3;107(6):1062-1077
pubmed: 33217309
Am J Hum Genet. 2002 Feb;70(2):324-35
pubmed: 11791207
Am J Hum Genet. 2007 Jul;81(1):136-46
pubmed: 17564970
N Engl J Med. 2019 Oct 24;381(17):1644-1652
pubmed: 31597037
Nat Genet. 1998 Jul;19(3):286-8
pubmed: 9662406
Nat Genet. 2006 Oct;38(10):1184-91
pubmed: 16964263
Mol Cell Proteomics. 2009 Jul;8(7):1708-18
pubmed: 19383612
FASEB J. 2010 Dec;24(12):4639-47
pubmed: 20667979
Hum Mutat. 2013 May;34(5):706-13
pubmed: 23418007
Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165571
pubmed: 31678159
N Engl J Med. 2018 May 17;378(20):1898-1907
pubmed: 29688815
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2336-8
pubmed: 25857620
Am J Hum Genet. 2011 Aug 12;89(2):241-52
pubmed: 21820099
Lancet Neurol. 2019 Jan;18(1):107-116
pubmed: 30470609
N Engl J Med. 2004 Nov 4;351(19):1972-7
pubmed: 15525722
Neurosci Lett. 2008 Dec 12;447(2-3):153-7
pubmed: 18834923
Am J Hematol. 2012 Apr;87(4):377-83
pubmed: 22388998
Mol Biol Cell. 2002 Jul;13(7):2410-20
pubmed: 12134079
Nucleic Acids Res. 2011 Jan;39(Database issue):D945-50
pubmed: 20952405
Neurology. 2014 Jun 10;82(23):2072-6
pubmed: 24827497
Pediatrics. 1969 Oct;44(4):570-83
pubmed: 5346636
Acta Neuropathol. 1985;68(3):209-17
pubmed: 4082923
J Bone Miner Res. 2021 Mar;36(3):531-545
pubmed: 33125761
Anal Chem. 2014 Aug 5;86(15):7962-8
pubmed: 25019629
Sci Rep. 2021 Mar 18;11(1):6332
pubmed: 33737578
Cell. 1995 Sep 22;82(6):949-57
pubmed: 7553855
Brain Dev. 2016 Aug;38(7):674-7
pubmed: 26846731
Ann Neurol. 2004 Sep;56(3):342-50
pubmed: 15349861
Cell Signal. 2018 Jan;42:236-248
pubmed: 29128403
Eur J Med Genet. 2019 Dec;62(12):103591
pubmed: 30500434
Neuron. 2004 Apr 22;42(2):237-51
pubmed: 15091340
Neurology. 2012 Jul 10;79(2):183-91
pubmed: 22778232
Am J Hum Genet. 2012 Jun 8;90(6):1102-7
pubmed: 22608501
Brain. 2006 Jun;129(Pt 6):1438-45
pubmed: 16670177
Anal Chem. 2018 Oct 16;90(20):12168-12171
pubmed: 30204428
Hum Mol Genet. 2008 Jan 15;17(2):303-12
pubmed: 17947292
Am J Med Genet. 2002 Nov 1;112(4):347-54
pubmed: 12376936
J Med Genet. 2012 Jun;49(6):391-9
pubmed: 22693283
Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165559
pubmed: 31655107
EMBO J. 2005 Mar 9;24(5):1079-91
pubmed: 15706348
Electrophoresis. 2012 Dec;33(24):3798-809
pubmed: 23160995
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2237-41
pubmed: 26026925
Science. 1997 Sep 19;277(5333):1802-5
pubmed: 9295267
BMC Med Genet. 2012 Jun 24;13:50
pubmed: 22727047
Hum Mol Genet. 2012 Jun 15;21(12):2646-50
pubmed: 22388936
Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165498
pubmed: 31207290
Nature. 1995 Aug 17;376(6541):584-7
pubmed: 7637805
Reprod Biomed Online. 2013 Aug;27(2):176-83
pubmed: 23768618
Brain. 2017 Feb;140(2):287-305
pubmed: 28137957
Biochim Biophys Acta. 2007 Oct;1774(10):1237-46
pubmed: 17765022
Hum Genomics. 2019 Apr 16;13(1):19
pubmed: 30992063
Nat Genet. 1999 Oct;23(2):233-6
pubmed: 10508524
Traffic. 2008 Nov;9(11):1905-14
pubmed: 18817525
Neurology. 2016 Aug 9;87(6):579-84
pubmed: 27412140