Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Algorithms
Child
Child, Preschool
Chromosome Banding
Comparative Genomic Hybridization
Epilepsy
/ complications
Female
Frameshift Mutation
Gene Deletion
Genetic Variation
Guanine Nucleotide Exchange Factors
/ genetics
High-Throughput Nucleotide Sequencing
Humans
Karyotyping
Male
Neurodevelopmental Disorders
/ complications
Oligonucleotide Array Sequence Analysis
Phenotype
X Chromosome Inactivation
Epilepsy
IQSEC2 gene
Neurodevelopmental disorders
Pathogenic sequence variant
Targeted NGS
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
13
01
2020
accepted:
11
05
2020
pubmed:
22
6
2020
medline:
16
6
2021
entrez:
22
6
2020
Statut:
ppublish
Résumé
Pathogenic sequence variants in the IQ motif- and Sec7 domain-containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report on a case of a family with three sons; two of them manifest delayed psychomotor development and epilepsy. Initially proband A was examined using a multistep molecular diagnostics algorithm, including karyotype and array-comparative genomic hybridization analysis, both with negative results. Therefore, probands A and B and their unaffected parents were enrolled for an analysis using targeted "next-generation" sequencing (NGS) with a gene panel ClearSeq Inherited Disease
Identifiants
pubmed: 32564198
doi: 10.1007/s10048-020-00616-3
pii: 10.1007/s10048-020-00616-3
doi:
Substances chimiques
Guanine Nucleotide Exchange Factors
0
IQSEC2 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM