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Journal of Assisted Reproduction and Genetics

Published in:

01-11-2020 | Infertility | Genetics

Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome

Authors: Zhihua Zhang, Ling Wu, Feiyang Diao, Biaobang Chen, Jing Fu, Xiaoyan Mao, Zheng Yan, Bin Li, Jian Mu, Zhou Zhou, Wenjing Wang, Lin Zhao, Jie Dong, Yang Zeng, Jing Du, Yanping Kuang, Xiaoxi Sun, Lin He, Qing Sang, Lei Wang

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2020

Abstract

Purpose

To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations.

Methods

Four affected individuals diagnosed with infertility-associated anovulation or oligo-ovulation from three independent families were recruited. Sanger sequencing was used to identify the LHCGR mutations in affected individuals. Western blot was performed to evaluate the effects of mutations on LHCGR protein levels. Immunofluorescence was done to explore the effects of mutations on LHCGR subcellular localization. The ATP levels were measured to infer the functional effects of the mutations on LHCGR.

Results

In the present study, three novel biallelic mutations in LHCGR were identified in four affected individuals from three independent families with empty follicle syndrome or oligo-ovulation. All biallelic mutations were inherited from the proband of their parents. The western blot showed that the identified mutations decreased LHCGR protein level and altered the glycosylation pattern. The immunofluorescence showed an ectopic subcellular localization of LHCGR in cultured HeLa cells. Besides, the mutations in LHCGR also reduced the cellular ATP consumption.

Conclusion

These findings confirm previous studies and expand the mutational spectrum of LHCGR, which will provide genetic diagnostic marker for patients with empty follicle syndrome.

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Title: Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome
Authors: Zhihua Zhang
Ling Wu
Feiyang Diao
Biaobang Chen
Jing Fu
Xiaoyan Mao
Zheng Yan
Bin Li
Jian Mu
Zhou Zhou
Wenjing Wang
Lin Zhao
Jie Dong
Yang Zeng
Jing Du
Yanping Kuang
Xiaoxi Sun
Lin He
Qing Sang
Lei Wang
Publication date: 01-11-2020
Publisher: Springer US
Keywords: Infertility
Infertility
Published in: Journal of Assisted Reproduction and Genetics / Issue 11/2020
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-020-01931-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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