Biallelic variants in
ZNF526
Microcephaly
bilateral cataract
epileptic encephalopathy
holoprosencephaly
simplified gyration
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
28
08
2020
revised:
04
12
2020
accepted:
19
12
2020
pubmed:
6
1
2021
medline:
10
5
2022
entrez:
5
1
2021
Statut:
ppublish
Résumé
Next-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date, biallelic missense variants in Here, we describe five individuals from four unrelated families with an undiagnosed neurodevelopmental disorder in which we performed exome sequencing, on a combination of trio-based (4 subjects) or single probands (1 subject). We identified five patients from four unrelated families with homozygous Our findings support the role of
Sections du résumé
BACKGROUND
Next-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date, biallelic missense variants in
METHODS
Here, we describe five individuals from four unrelated families with an undiagnosed neurodevelopmental disorder in which we performed exome sequencing, on a combination of trio-based (4 subjects) or single probands (1 subject).
RESULTS
We identified five patients from four unrelated families with homozygous
CONCLUSION
Our findings support the role of
Identifiants
pubmed: 33397746
pii: jmedgenet-2020-107430
doi: 10.1136/jmedgenet-2020-107430
doi:
Substances chimiques
Znf526 protein, zebrafish
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
262-269Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.