全外显子测序在原发性不孕伴卵泡为空的女性中发现 LHCGR 基因的新型纯合错义突变。
Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.
机构信息
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan, China.
Department of Reproductive Medicine, Linyi People's Hospital, Shandong University, Linyi, China.
出版信息
J Obstet Gynaecol Res. 2023 Oct;49(10):2436-2445. doi: 10.1111/jog.15747. Epub 2023 Jul 18.
AIM
The genetic basis of empty follicle syndrome (EFS) is largely unknown, and the aim of this study was to investigate the genetic causes of EFS in primary infertile women.
METHODS
Four affected women diagnosed with anovulation were recruited, and whole exome sequencing (WES) was requested for the genetic diagnosis of the cases. One hundred healthy controls were verified by Sanger sequencing.
RESULTS
A novel homozygous variant of the LHCGR gene (NM_000233:c.1847C>A) was revealed in one affected individual by WES. Trios analysis of the mutation revealed an autosomal recessive pattern. This LHCGR variant was absent in 100 healthy controls and predicted to be highly damaging to the function of LHCGR.
CONCLUSIONS
The novel variant extends the mutational spectrum of the LHCGR gene associated with female sterility, which promotes the prognostic value of testing for LHCGR mutations in infertile women with EFS.
目的
空卵泡综合征（EFS）的遗传基础在很大程度上尚不清楚，本研究旨在探讨原发性不孕妇女 EFS 的遗传原因。
方法
招募了 4 名被诊断为排卵障碍的受影响女性，并要求对这些病例进行全外显子组测序（WES）以进行基因诊断。100 名健康对照通过 Sanger 测序进行验证。
结果
通过 WES 在一名受影响个体中发现了 LHCGR 基因（NM_000233：c.1847C>A）的新型纯合变异。该突变的三代分析显示常染色体隐性遗传模式。该 LHCGR 变体在 100 名健康对照中不存在，并且预测对 LHCGR 的功能具有高度破坏性。
结论
该新型变体扩展了与女性不育相关的 LHCGR 基因突变谱，这提高了在具有 EFS 的不孕妇女中检测 LHCGR 突变的预后价值。
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