Homozygous hypomorphic
BRCA2 exome
cancer Fanconi anemia
meiosis
primary ovarian insufficiency
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 Jun 2020
01 Jun 2020
Historique:
received:
05
11
2019
revised:
08
04
2020
accepted:
12
04
2020
entrez:
3
6
2020
pubmed:
3
6
2020
medline:
3
6
2020
Statut:
aheadofprint
Résumé
Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anaemia (FA) traits related to biallelic Exome sequencing (ES) was performed in the patient. We also performed functional studies, including a homologous recombination (HR) test, cell proliferation, radiation-induced RAD51 foci formation assays and chromosome breakage studies in primary and lymphoblastoid immortalised cells. The expression of ES identified a homozygous missense c.8524C>T/p.R2842C We describe the functional assessment of a homozygous hypomorphic
Sections du résumé
BACKGROUND
BACKGROUND
Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anaemia (FA) traits related to biallelic
METHODS
METHODS
Exome sequencing (ES) was performed in the patient. We also performed functional studies, including a homologous recombination (HR) test, cell proliferation, radiation-induced RAD51 foci formation assays and chromosome breakage studies in primary and lymphoblastoid immortalised cells. The expression of
RESULTS
RESULTS
ES identified a homozygous missense c.8524C>T/p.R2842C
CONCLUSION
CONCLUSIONS
We describe the functional assessment of a homozygous hypomorphic
Identifiants
pubmed: 32482800
pii: jmedgenet-2019-106672
doi: 10.1136/jmedgenet-2019-106672
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.