运用全外显子测序技术对非综合征型卵巢早衰的研究：伊朗一个家系中ficolin-3 基因突变。
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family.
机构信息
Cellular and Molecular Research Center Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Department of Gynecologym, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
出版信息
Iran Biomed J. 2021 Nov 1;25(6):441-6. doi: 10.52547/ibj.25.6.441.
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.
背景
卵巢早衰是一种异质性疾病，导致早发性绝经。已经确定了几个基因是导致非综合征性卵巢早衰（POF）的原因。我们的目的是探讨伊朗 POF 患者的遗传缺陷。
方法
我们研究了一个家系，其中有 3 名女性表现为非综合征性 POF。在排除脆性 X 智力低下 1 基因的 CGG 重复扩增后，对其中一个受影响的个体进行了 WES。对先证者进行 Sanger 测序以确认候选序列变异，并对家系中其他受影响和未受影响的成员进行检测突变的筛查。
结果
在先证者和另外两名患者中发现 ficolin-3（FCN3）基因的纯合移码突变 c.349delC。父母和两个健康的兄弟为突变的杂合子，而未受影响的姐妹为野生型纯合子。
结论
这是 FCN3 基因突变在 POF 家系中的首次报道。我们的发现可以增强 POF 患者的遗传数据库，特别是对于具有高风险背景的家族。
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