چهارشنبه 24 اردیبهشت 1404
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دوره 19، شماره 5 - ( 3-1400 )
جلد 19 شماره 5 صفحات 89-89 |
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Akbari A, Padidar K, Salehi N, Mashayekhi M, Almadani N, Sadighi Gilani M, et al . A-2
Whole-exome sequencing in patients with primary ovarian insufficiency. IJRM 2021; 19 (5) :89-89
URL: http://ijrm.ir/article-1-2707-fa.html
URL: http://ijrm.ir/article-1-2707-fa.html
A-2
Whole-exome sequencing in patients with primary ovarian insufficiency. International Journal of Reproductive BioMedicine. 1400; 19 (5) :89-89
چکیده: (290 مشاهده)
Background: Primary ovarian insufficiency (POI) is a complex and relatively poorly understood disorder. It affects 1% of women below the age of 40 accompanied by raised gonadotropins and estradiol deprivation. Women with POI have no antral follicles and size of ovaries are below normal.
Objective: Our objective was to identify the genetic cause of POI in affected members of a consanguineous Iranian family.
Materials and Methods: In this study, we recruited an Iranian family with 2 affected members to be studied by whole exome sequencing (WES). Validation of WES results and cosegregation analysis was performed by Sanger Sequencing. In silico analysis was used to predict the effect and pathogenicity level of the discovered variants.
Results: The proband and her affected sister tested normal for karyotype and FMR1 CGG repeats. A final list of pathogenic variants was prepared according to WES results, and one specific variant in a conserved domain of transcription factor protein was confirmed to be mutual among the affected. The discovered variant is very rare in the gnomAD database.
Conclusion: This study supports the clinical applicability of WES for cost-effective molecular diagnosis and improves the understanding of the genetic basis of female infertility and ovarian function. Therefore, our finding provides yet another piece of evidence that Loss of function variations in transcription factors with limited expression in ovaries may be the cause of POI.
Key words: Primary ovarian insufficiency, Familial exome sequencing, Causative mutation.
The original full text of this abstract has been published in Human Reproduction 2021; 36 (4): 1134-1145. https://doi.org/10.1093/humrep/deaa362.
How to cite to this article: Akbari A, Padidar K, Salehi N, Mashayekhi M, Almadani N, Sadighi Gilani MA, Bashambou A, McElreavey K, Totonchi M. Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. Human Reproduction 2021; 36(4): 1134-1145.
Objective: Our objective was to identify the genetic cause of POI in affected members of a consanguineous Iranian family.
Materials and Methods: In this study, we recruited an Iranian family with 2 affected members to be studied by whole exome sequencing (WES). Validation of WES results and cosegregation analysis was performed by Sanger Sequencing. In silico analysis was used to predict the effect and pathogenicity level of the discovered variants.
Results: The proband and her affected sister tested normal for karyotype and FMR1 CGG repeats. A final list of pathogenic variants was prepared according to WES results, and one specific variant in a conserved domain of transcription factor protein was confirmed to be mutual among the affected. The discovered variant is very rare in the gnomAD database.
Conclusion: This study supports the clinical applicability of WES for cost-effective molecular diagnosis and improves the understanding of the genetic basis of female infertility and ovarian function. Therefore, our finding provides yet another piece of evidence that Loss of function variations in transcription factors with limited expression in ovaries may be the cause of POI.
Key words: Primary ovarian insufficiency, Familial exome sequencing, Causative mutation.
The original full text of this abstract has been published in Human Reproduction 2021; 36 (4): 1134-1145. https://doi.org/10.1093/humrep/deaa362.
How to cite to this article: Akbari A, Padidar K, Salehi N, Mashayekhi M, Almadani N, Sadighi Gilani MA, Bashambou A, McElreavey K, Totonchi M. Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. Human Reproduction 2021; 36(4): 1134-1145.
نوع مطالعه: Congress Abstract |
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