Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
CSNK2B
Pobinds
epilepsy
neurodevelopment
seizure
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
30 01 2022
30 01 2022
Historique:
received:
31
12
2021
revised:
19
01
2022
accepted:
23
01
2022
entrez:
25
2
2022
pubmed:
26
2
2022
medline:
22
4
2022
Statut:
epublish
Résumé
Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the Our multicentric, retrospective study recruited nine patients with POBINDS, detected using next-generation sequencing panels and whole-exome sequencing. Clinical, laboratory, and neuroimaging data were reported for each patient in order to assess the severity of phenotype, and eventually, a correlation with the type of We reported nine unrelated patients with heterozygous de novo mutations of the Although it was not possible to assess a genotype-phenotype correlation in our patients, our research further expands the phenotype spectrum of POBINDS patients, identifying new mutations occurring in the
Sections du résumé
BACKGROUND
Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the
METHODS
Our multicentric, retrospective study recruited nine patients with POBINDS, detected using next-generation sequencing panels and whole-exome sequencing. Clinical, laboratory, and neuroimaging data were reported for each patient in order to assess the severity of phenotype, and eventually, a correlation with the type of
RESULTS
We reported nine unrelated patients with heterozygous de novo mutations of the
CONCLUSION
Although it was not possible to assess a genotype-phenotype correlation in our patients, our research further expands the phenotype spectrum of POBINDS patients, identifying new mutations occurring in the
Identifiants
pubmed: 35205321
pii: genes13020276
doi: 10.3390/genes13020276
pmc: PMC8872204
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Nat Commun. 2018 Feb 26;9(1):838
pubmed: 29483533
Am J Med Genet A. 2021 Feb;185(2):539-543
pubmed: 33166063
Prog Neurobiol. 2000 Feb;60(3):211-46
pubmed: 10658642
Hum Mutat. 2017 Aug;38(8):932-941
pubmed: 28585349
J Hum Genet. 2019 Apr;64(4):313-322
pubmed: 30655572
Signal Transduct Target Ther. 2021 May 17;6(1):183
pubmed: 33994545
Epilepsia. 2021 Jul;62(7):e103-e109
pubmed: 34041744
Neurogenetics. 2021 Oct;22(4):323-332
pubmed: 34370157
Int J Mol Sci. 2019 Nov 26;20(23):
pubmed: 31779225
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Seizure. 2021 Dec;93:133-139
pubmed: 34740143
J Biol Chem. 2006 Jul 7;281(27):18394-400
pubmed: 16672224
Biomed Rep. 2017 Feb;6(2):127-133
pubmed: 28357063
Hum Mutat. 2017 Nov;38(11):1611-1612
pubmed: 28762608
Sci Rep. 2019 Nov 29;9(1):17909
pubmed: 31784560
Blood. 2010 Oct 7;116(14):2513-21
pubmed: 20576813
Neurosci Lett. 2018 Feb 22;667:4-9
pubmed: 28499889