Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Adolescent
Adult
Child
Child, Preschool
Cohort Studies
Exome
/ genetics
Fragile X Syndrome
Genes, X-Linked
/ genetics
Guanine Nucleotide Exchange Factors
/ genetics
High-Throughput Nucleotide Sequencing
/ methods
Humans
Infant
Intellectual Disability
/ genetics
Male
Mediator Complex
/ genetics
Mental Retardation, X-Linked
/ diagnosis
Monoamine Oxidase
/ genetics
Mutation
/ genetics
Nerve Tissue Proteins
/ genetics
Pedigree
Plasma Membrane Neurotransmitter Transport Proteins
/ genetics
Retrospective Studies
Sodium-Hydrogen Exchangers
/ genetics
Transcription Factors
Exome Sequencing
/ methods
HUWE1
IQSEC2
MED12
PHF8
SLC6A8
SLC9A6
SYN1
X-linked intellectual disability
gene panel
next-generation sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
02 01 2020
02 01 2020
Historique:
received:
03
12
2019
revised:
19
12
2019
accepted:
30
12
2019
entrez:
8
1
2020
pubmed:
8
1
2020
medline:
24
6
2020
Statut:
epublish
Résumé
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected brothers whose mothers show skewed X-inactivation. Sequencing data analysis identified 17 candidate variants in 16 patients. Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed:
Identifiants
pubmed: 31906484
pii: genes11010051
doi: 10.3390/genes11010051
pmc: PMC7017351
pii:
doi:
Substances chimiques
Guanine Nucleotide Exchange Factors
0
IQSEC2 protein, human
0
MED12 protein, human
0
Mediator Complex
0
Nerve Tissue Proteins
0
Plasma Membrane Neurotransmitter Transport Proteins
0
SLC6A8 protein, human
0
SLC9A6 protein, human
0
Sodium-Hydrogen Exchangers
0
Transcription Factors
0
Monoamine Oxidase
EC 1.4.3.4
monoamine oxidase A, human
EC 1.4.3.4.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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