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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

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dc.contributor.authorARMAN, AHMET
dc.contributor.authorsTurkyilmaz, Ayberk; Alavanda, Ceren; Ates, Esra Arslan; Geckinli, Bilgen Bilge; Polat, Hamza; Gokcu, Mehmet; Karakaya, Taner; Cebi, Alper Han; Soylemez, Mehmet Ali; Guney, Ahmet Ilter; Ata, Pinar; Arman, Ahmet
dc.date.accessioned2022-03-23T09:35:10Z
dc.date.available2022-03-23T09:35:10Z
dc.date.issued2022
dc.description.abstractPurpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients. Methods A total of 35 patients (mean age: 27.2 years) from 28 different families diagnosed with POI were included in the study. Karyotype, FMR1 premutation analysis, single nucleotide polymorphism (SNP) array, and whole-exome sequencing (WES) were conducted to determine the genetic etiology of patients. Results A total of 35 patients with POI were first evaluated by karyotype analysis, and chromosomal anomaly was detected in three (8.5%) and FMR1 premutation was detected in six patients (17%) from two different families. A total of 29 patients without FMR1 premutation were included in the SNP array analysis, and one patient had a 337-kb deletion in the chromosome 6q26 region including PARK2 gene, which was thought to be associated with POI. Twenty-nine cases included in SNP array analysis were evaluated simultaneously with WES analysis, and genetic variant was detected in 55.1% (16/29). Conclusion In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of detected novel genes and variations on different pathways such as gonadal development, meiosis and DNA repair, or metabolism need to be investigated by experimental studies. Molecular etiology allows accurate genetic counseling to the patient and family as well as fertility planning.
dc.identifier.doi10.1007/s10815-022-02408-0
dc.identifier.eissn1573-7330
dc.identifier.issn1058-0468
dc.identifier.pubmed35066699
dc.identifier.urihttps://hdl.handle.net/11424/254619
dc.identifier.wosWOS:000745557000001
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERS
dc.relation.ispartofJOURNAL OF ASSISTED REPRODUCTION AND GENETICS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectSNP array
dc.subjectFIGNL1
dc.subjectPrimary ovarian insufficiency
dc.subjectWhole-exome sequencing
dc.subjectANTI-MULLERIAN HORMONE
dc.subjectCANDIDATE GENES
dc.subjectTURKISH WOMEN
dc.subjectFAILURE
dc.subjectCHROMOSOME
dc.subjectLEUKODYSTROPHY
dc.subjectABNORMALITIES
dc.subjectGENERATION
dc.subjectPROTEIN
dc.subjectIDENTIFICATION
dc.titleWhole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
dc.typearticle
dspace.entity.typePublication
local.avesis.id06b21a1e-9204-4345-8ac4-cc0e36590643
local.import.packageSS26
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages16
oaire.citation.titleJOURNAL OF ASSISTED REPRODUCTION AND GENETICS
relation.isAuthorOfPublicationaeb6705c-76c3-423f-bf49-bf3e1bb0edf1
relation.isAuthorOfPublication.latestForDiscoveryaeb6705c-76c3-423f-bf49-bf3e1bb0edf1

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