Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
J Assist Reprod Genet
; 36(1): 39-45, 2019 Jan.
Article
in En
| MEDLINE
| ID: mdl-30406445
ABSTRACT
PURPOSE:
To investigate the potential genetic etiology of premature ovarian insufficiency (POI).METHODS:
Whole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according to the guidelines of the American College of Medical Genetics and Genomics. Plausible variants were confirmed by Sanger sequencing.RESULTS:
Four of the 33 individuals (12%) carried pathogenic or likely pathogenic variants, and 6 individuals carried variants of unknown significance. The genes identified with pathogenic or likely pathogenic variants included PMM2, MCM9, and PSMC3IP.CONCLUSIONS:
WES is an efficient tool for identifying gene variants in POI women; however, interpretation of variants is hampered by few exome studies involving ovarian disorders and the need for trio sequencing to determine inheritance and to detect de novo variants.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Nuclear Proteins
/
Trans-Activators
/
Primary Ovarian Insufficiency
/
Phosphotransferases (Phosphomutases)
/
Exome
/
Minichromosome Maintenance Proteins
/
Exome Sequencing
Type of study:
Guideline
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
J Assist Reprod Genet
Journal subject:
GENETICA
/
MEDICINA REPRODUTIVA
Year:
2019
Document type:
Article
Affiliation country: