Homozygous mutation in
DNA replication
genetic association studies
missense
mutation
nervous system diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
27
10
2020
revised:
15
02
2021
accepted:
02
03
2021
pubmed:
2
6
2021
medline:
27
4
2022
entrez:
1
6
2021
Statut:
ppublish
Résumé
Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important for the initiation and elongation of the replication fork and highly expressed in proliferating neural stem cells. Whole-exome sequencing was applied to identify the genetic cause underlying the neurodevelopmental disease of the index family. The expression pattern of We reported that the homozygous missense variant c.793G>A/p.A265T (g.7:99695841C>T, NM_005916.4) in We report mutations of
Sections du résumé
BACKGROUND
Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important for the initiation and elongation of the replication fork and highly expressed in proliferating neural stem cells.
METHODS
Whole-exome sequencing was applied to identify the genetic cause underlying the neurodevelopmental disease of the index family. The expression pattern of
RESULTS
We reported that the homozygous missense variant c.793G>A/p.A265T (g.7:99695841C>T, NM_005916.4) in
CONCLUSION
We report mutations of
Identifiants
pubmed: 34059554
pii: jmedgenet-2020-107518
doi: 10.1136/jmedgenet-2020-107518
pmc: PMC9046757
doi:
Substances chimiques
MCM7 protein, human
EC 3.6.4.12
Minichromosome Maintenance Complex Component 7
EC 3.6.4.12
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
453-461Informations de copyright
© Author(s) (or their employer(s)) 2022. 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.
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