ArticleJournal of assisted reproduction and genetics2014
A novel compound heterozygous mutation of the luteinizing hormone receptor -implications for fertility.
Article in Journal of assisted reproduction and genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- Successful Live Birth Outcome in A Patient with Empty Follicle Syndrome: A Case Report and Literature Review.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- The Luteinizing Hormone Receptor Knockout Mouse as a Tool to Probe the In Vivo Actions of Gonadotropic Hormones/Receptors in Females.Endocrinology · 2021Article
- Unconventional Actions of Glycoprotein Hormone Subunits: A Comprehensive Review.Frontiers in endocrinology · 2021Review
- Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome.Journal of assisted reproduction and genetics · 2020Article
- Precise editing of myostatin signal peptide by CRISPR/Cas9 increases the muscle mass of Liang Guang Small Spotted pigs.Transgenic research · 2020Article
- Human Chorionic Gonadotrophin: New Pleiotropic Functions for an "Old" Hormone During Pregnancy.Frontiers in immunology · 2020Review
- Genetics and Epigenetics of Infertility and Treatments on Outcomes.The Journal of clinical endocrinology and metabolism · 2019Review
- Novel Compound Heterozygous Variants in theJournal of clinical research in pediatric endocrinology · 2019Article
- Histone demethylase KDM4A and KDM4B expression in granulosa cells from women undergoing in vitro fertilization.Journal of assisted reproduction and genetics · 2018Article
- The Phosphatase Dusp7 Drives Meiotic Resumption and Chromosome Alignment in Mouse Oocytes.Cell reports · 2016Article
- Extragonadal FSH receptor: is it real?Biology of reproduction · 2014Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) belongs to the family of G-protein coupled receptors and binds both luteinizing hormone (LH) and human chorionic gonadotropin (hCG). Ligand-receptor interaction mediates a downstream cascade of events which is essential for ovulation in women, and expression of the male phenotype in men. The human LHCGR gene consists of 11exons and 10 introns. Homozygous and compound heterozygous mutations may inactivate the receptor by altering its structure and subsequent function. Herein we reported a novel, compound heterozgygous inactivating LHCGR mutation in a woman who presented with secondary infertility, having previously carried to term a donor oocyte pregnancy. A 27 bp deletion was detected in exon I at amino acid number 12. This mutation involved the signal peptide region, which is important for protein targeting, maturation and cellular expression. Another mutation involving a 2 base pair (thymine and cytosine) deletion was detected in exon 11 at amino acid number 586. This deletion produced a frameshift resulting in a premature stop codon and a truncated protein. An XY sibling with the same mutations was phenotypically female and misdiagnosed as complete androgen insensitivity syndrome. Other unaffected family members were genetically tested and carried one of the two mutations.
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