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

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 inde

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC7642116 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature