Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
03
03
2021
received:
11
02
2021
accepted:
03
03
2021
pubmed:
24
3
2021
medline:
12
1
2022
entrez:
23
3
2021
Statut:
ppublish
Résumé
In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a very young age (16 months). The latter, carrying the first de novo intragenic deletion so far reported in SPTBN2 gene, showed a mild cerebellar atrophy involving the hemispheres and a later onset. In both cases, for the first time, a hyperintense signal of the dentate nuclei was observed.
Identifiants
pubmed: 33756041
doi: 10.1002/acn3.51345
pmc: PMC8045899
doi:
Substances chimiques
SPTBN2 protein, human
0
Spectrin
12634-43-4
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
956-963Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
J Hum Genet. 2014 Oct;59(10):569-73
pubmed: 25142508
Cerebellum. 2013 Apr;12(2):162-4
pubmed: 22843192
Cerebellum. 2020 Feb;19(1):161-163
pubmed: 31721007
Cerebellum. 2018 Jun;17(3):276-285
pubmed: 29196973
Eur J Hum Genet. 2018 Jul;26(7):928-929
pubmed: 29795474
Neurology. 2004 Jan 27;62(2):327-9
pubmed: 14745083
J Cell Biol. 2010 Apr 5;189(1):143-58
pubmed: 20368622
Hum Mutat. 2004 Nov;24(5):440
pubmed: 15459970
Mol Genet Metab. 2006 Nov;89(3):222-6
pubmed: 16935016
Nat Genet. 2006 Feb;38(2):184-90
pubmed: 16429157
J Child Neurol. 2020 Feb;35(2):106-110
pubmed: 31617442
Bioinformatics. 2012 Nov 1;28(21):2747-54
pubmed: 22942019
J Child Neurol. 2013 Oct;28(10):1292-5
pubmed: 22914369
Brain Dev. 2019 Aug;41(7):630-633
pubmed: 30898343
BMJ Case Rep. 2020 Dec 13;13(12):
pubmed: 33318253
Clin Genet. 2019 Aug;96(2):169-175
pubmed: 31066025
Eur J Hum Genet. 2014 Feb;22(2):286-8
pubmed: 23838597
PLoS Genet. 2012;8(12):e1003074
pubmed: 23236289
Handb Clin Neurol. 2012;103:451-9
pubmed: 21827906
Mol Genet Metab. 1999 Jul;67(3):183-93
pubmed: 10381326
Genetics. 1991 May;128(1):143-61
pubmed: 2060774
Brain. 2015 Jul;138(Pt 7):1817-32
pubmed: 25981959
J Hum Genet. 2009 Aug;54(8):466-73
pubmed: 19609279