Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
FIGNL1
Primary ovarian insufficiency
SNP array
Whole-exome sequencing
Journal
Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
06
09
2021
accepted:
19
01
2022
pubmed:
24
1
2022
medline:
13
4
2022
entrez:
23
1
2022
Statut:
ppublish
Résumé
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. 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. 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). 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.
Identifiants
pubmed: 35066699
doi: 10.1007/s10815-022-02408-0
pii: 10.1007/s10815-022-02408-0
pmc: PMC8995228
doi:
Substances chimiques
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
695-710Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
J Hum Genet. 2017 Feb;62(2):329-333
pubmed: 27734837
Climacteric. 2019 Aug;22(4):403-411
pubmed: 30829083
J Assist Reprod Genet. 2021 Apr;38(4):965-978
pubmed: 33538981
J Ovarian Res. 2020 Sep 22;13(1):114
pubmed: 32962729
Eur J Hum Genet. 2018 Sep;26(9):1319-1328
pubmed: 29706645
Fertil Steril. 2019 Sep;112(3):569-576.e2
pubmed: 31280959
Genomics. 2016 Dec;108(5-6):209-215
pubmed: 27989800
Int J Gynaecol Obstet. 2010 Aug;110(2):122-4
pubmed: 20471647
Acta Clin Croat. ;55(4):629-635
pubmed: 29117655
Handb Clin Neurol. 2018;147:377-391
pubmed: 29325626
Hum Reprod. 2016 Aug;31(8):1913-25
pubmed: 27301361
Syst Biol Reprod Med. 2017 Jun;63(3):145-149
pubmed: 28306340
Int J Fertil. 1989 May-Jun;34(3):184-7
pubmed: 2567712
BMC Med Genomics. 2020 Oct 27;13(1):159
pubmed: 33109206
J Ovarian Res. 2016 Oct 3;9(1):63
pubmed: 27716277
Hum Reprod. 2016 May;31(5):926-37
pubmed: 27008889
Genes Dev. 2000 May 1;14(9):1085-97
pubmed: 10809667
J Autoimmun. 2009 Aug;33(1):35-41
pubmed: 19346101
J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067
pubmed: 31042289
Mol Hum Reprod. 2016 Sep;22(9):669-78
pubmed: 27430550
J Clin Endocrinol Metab. 2016 Dec;101(12):4541-4550
pubmed: 27603904
J Endocr Soc. 2021 Mar 01;5(7):bvab032
pubmed: 34095689
Acta Neurol Scand. 2018 Oct;138(4):278-283
pubmed: 29749055
Hum Reprod. 2014 Aug;29(8):1818-27
pubmed: 24939957
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Eur J Endocrinol. 2008 Jan;158(1):107-15
pubmed: 18166824
Hum Reprod Update. 2015 Nov-Dec;21(6):787-808
pubmed: 26243799
Hum Mol Genet. 2017 Apr 15;26(8):1452-1457
pubmed: 28175301
Birth Defects Orig Artic Ser. 1975;11(4):23-59
pubmed: 1098702
Hum Mol Genet. 2017 Aug 15;26(16):3161-3166
pubmed: 28541421
Mol Endocrinol. 2000 Jul;14(7):1053-63
pubmed: 10894154
Hum Genet. 1994 Aug;94(2):171-6
pubmed: 8045563
Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Dec 18;45(6):841-7
pubmed: 24343059
Climacteric. 2015;18(4):656-8
pubmed: 25427618
Hum Reprod. 2012 Jul;27(7):2201-7
pubmed: 22513983
Mol Cytogenet. 2015 Jul 15;8:50
pubmed: 26175800
Am J Hum Genet. 1998 Mar;62(3):533-41
pubmed: 9497258
Neurol Genet. 2017 Feb 15;3(2):e135
pubmed: 28243630
PLoS One. 2020 Oct 23;15(10):e0240795
pubmed: 33095795
Hum Genet. 2019 Jan;138(1):83-92
pubmed: 30603774
J Hum Genet. 2016 Oct;61(10):899-902
pubmed: 27251004
Acta Obstet Gynecol Scand. 1998 Apr;77(4):467-9
pubmed: 9598963
PLoS Genet. 2015 Jul 28;11(7):e1005419
pubmed: 26218421
Mov Disord Clin Pract. 2020 Jul 07;7(6):684-687
pubmed: 32775515
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
PLoS One. 2011;6(11):e27582
pubmed: 22110678
Syst Biol Reprod Med. 2015;61(6):367-75
pubmed: 26391928
Hum Genet. 2007 May;121(3-4):441-50
pubmed: 17265046
Ann N Y Acad Sci. 2008;1135:146-54
pubmed: 18574220
J Assist Reprod Genet. 2021 Apr;38(4):759-777
pubmed: 33495935
Neurology. 2014 Jun 10;82(23):2063-71
pubmed: 24808023
Mol Cell Endocrinol. 2005 Apr 29;234(1-2):81-6
pubmed: 15836956
Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10640-5
pubmed: 23754376
Curr Opin Genet Dev. 2006 Jun;16(3):293-300
pubmed: 16650756
C R Biol. 2014 Dec;337(12):691-4
pubmed: 25433561
Fertil Steril. 2015 Jul;104(1):154-62.e2
pubmed: 25989972
Cell. 1998 May 1;93(3):467-76
pubmed: 9590180
Fertil Steril. 2011 Apr;95(5):1595-600
pubmed: 21256485
Hum Reprod. 2021 Mar 18;36(4):1134-1145
pubmed: 33448284
Genes Dev. 1999 Mar 1;13(5):523-31
pubmed: 10072381
Cell. 1992 Dec 11;71(6):939-53
pubmed: 1339317
Biochem Soc Trans. 2015 Dec;43(6):1234-40
pubmed: 26614666
Hum Mutat. 2020 May;41(5):1033-1041
pubmed: 32048394
Genes (Basel). 2016 Dec 13;7(12):
pubmed: 27983607
J Assist Reprod Genet. 2019 Jan;36(1):39-45
pubmed: 30406445
Sex Dev. 2010 Sep;4(4-5):225-32
pubmed: 20606390
J Biol Chem. 2017 Feb 3;292(5):1798-1807
pubmed: 28031467
Ann N Y Acad Sci. 2008;1135:99-111
pubmed: 18574214
Hum Reprod. 2019 Mar 1;34(3):574-583
pubmed: 30689869
Reprod Sci. 2022 May;29(5):1408-1413
pubmed: 33977503
Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:76-80
pubmed: 29275276
J Biomed Biotechnol. 2011;2011:370195
pubmed: 21318170
Endocrinology. 2019 Oct 1;160(10):2353-2366
pubmed: 31393557
J Endocr Soc. 2019 Feb 19;4(2):bvz037
pubmed: 32099950
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Hum Reprod. 2006 Jun;21(6):1477-83
pubmed: 16497693
Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:211-5
pubmed: 25445102
Obstet Gynecol. 2014 Jul;124(1):193-197
pubmed: 24945456
Hum Reprod. 2014 Feb;29(2):368-79
pubmed: 24324027