Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family

Mehrjooy, Soophia; Nikbakht, Roshan; Mohammadi asl, Javad; Ghadiri, Ata; Ghandil, Pegah

doi:10.52547/ibj.25.6.441

Volume 25, Issue 6 (11-2021) IBJ 2021, 25(6): 441-446 | Back to browse issues page

‎ 10.52547/ibj.25.6.441

‎ 20.1001.1.1028852.2021.25.6.7.1

PMID: 34641644

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Mehrjooy S, Nikbakht R, Mohammadi asl J, Ghadiri A, Ghandil P. Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family. IBJ 2021; 25 (6) :441-446
URL: http://ibj.pasteur.ac.ir/article-1-3375-en.html

Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family

Soophia Mehrjooy

, Roshan Nikbakht

, Javad Mohammadi asl

, Ata Ghadiri

, Pegah Ghandil ^*

Abstract:

Background: Premature ovarian failure is a heterogeneous disorder, leading to early menopause. Several genes have been identified as the cause of non-syndromic premature ovarian failure (POF). Our aim was to explore the genetic defects in Iranian patients with POF. Methods: We studied a family with three females exhibiting non-syndromic POF. WES was performed for one of the affected individuals after ruling out the presence of CGG repeat expansion at fragile X mental retardation 1 gene in the family. Sanger sequencing was used to confirm the candidate sequence variants in the proband, and screening of the detected mutation was performed for the other affected and unaffected members of the family. Results: A homozygous frameshift mutation, c.349delC, was identified in ficolin-3 (FCN3) gene in the proband and two other patients. The parents and two healthy brothers were heterozygous for the mutation, and an unaffected sister was homozygous for wild type. Conclusion: This is the first report of a mutation in FCN3 gene in a family with POF. Our findings can lead to the enhancement of genetic databases of patients with POF, specifically for families with high-risk background.

Keywords: Ficolin-3, Premature ovarian failure, Whole exome sequencing

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Type of Study: Full Length/Original Article | Subject: Molecular Genetics & Genomics

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