Defining the phenotypical spectrum associated with variants in
Adolescent
Adult
Brain
/ diagnostic imaging
Cerebellar Vermis
/ diagnostic imaging
Child
Child, Preschool
Developmental Disabilities
/ diagnostic imaging
Female
Genetic Predisposition to Disease
Humans
Intellectual Disability
/ diagnostic imaging
Male
Mutation, Missense
/ genetics
Nervous System Malformations
/ diagnostic imaging
Neuroimaging
/ methods
Phenotype
Polymicrogyria
/ diagnostic imaging
Tubulin
/ deficiency
Young Adult
clinical genetics
epilepsy and seizures
genetics
neurology
neurosciences
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
26
11
2019
revised:
05
02
2020
accepted:
05
03
2020
pubmed:
24
6
2020
medline:
11
9
2021
entrez:
24
6
2020
Statut:
ppublish
Résumé
Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in In order to further refine the phenotypical spectrum associated with We report 12 patients with eight novel and one recurrent variants spread throughout the The imaging phenotype associated with pathogenic variants in
Sections du résumé
BACKGROUND
Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in
METHODS
In order to further refine the phenotypical spectrum associated with
RESULTS
We report 12 patients with eight novel and one recurrent variants spread throughout the
CONCLUSION
The imaging phenotype associated with pathogenic variants in
Identifiants
pubmed: 32571897
pii: jmedgenet-2019-106740
doi: 10.1136/jmedgenet-2019-106740
pmc: PMC7803914
doi:
Substances chimiques
TUBB2A protein, human
0
Tubulin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
33-40Subventions
Organisme : NINDS NIH HHS
ID : R01 NS050375
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Hum Mol Genet. 2018 Jun 1;27(11):1892-1904
pubmed: 29547997
Pediatr Neurol. 2018 Oct;87:48-56
pubmed: 30174244
Hum Mol Genet. 2015 Sep 15;24(18):5313-25
pubmed: 26130693
Eur J Hum Genet. 2018 Aug;26(8):1132-1142
pubmed: 29706637
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Cell. 2010 Jan 8;140(1):74-87
pubmed: 20074521
Curr Opin Cell Biol. 2008 Feb;20(1):71-6
pubmed: 18226514
Am J Med Genet A. 2017 Oct;173(10):2725-2730
pubmed: 28840640
Acta Neuropathol Commun. 2014 Jul 25;2:69
pubmed: 25059107
J Dev Biol. 2017 Sep;5(3):
pubmed: 29057214
Orphanet J Rare Dis. 2019 Feb 11;14(1):38
pubmed: 30744660
J Child Neurol. 2017 Jan;32(1):127-131
pubmed: 27770045
Cytoskeleton (Hoboken). 2016 Oct;73(10):521-550
pubmed: 26934450
Hum Mol Genet. 2014 Mar 15;23(6):1516-26
pubmed: 24179174
Cytoskeleton (Hoboken). 2010 Apr;67(4):214-23
pubmed: 20191564
Am J Hum Genet. 2014 Apr 3;94(4):634-41
pubmed: 24702957
Eur J Med Genet. 2018 Dec;61(12):744-754
pubmed: 30016746
J Exp Neurosci. 2018 Mar 1;12:1179069518759332
pubmed: 29551911
AJNR Am J Neuroradiol. 2016 Mar;37(3):528-35
pubmed: 26564436
Biosci Rep. 2010 Apr 15;30(5):319-30
pubmed: 20406197
JAMA. 2014 Nov 12;312(18):1880-7
pubmed: 25326637
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303
pubmed: 29788355
Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5378-83
pubmed: 18388201
Brain. 2014 Jun;137(Pt 6):1676-700
pubmed: 24860126
Neuron. 2014 Oct 22;84(2):324-31
pubmed: 25374358
Neuron. 2015 Aug 5;87(3):492-506
pubmed: 26247859
Cell Rep. 2012 Dec 27;2(6):1554-62
pubmed: 23246003
Cells. 2019 Jul 02;8(7):
pubmed: 31269740