Dataset Information

Rare variants in GPR3 in POI patients: a case series with review of literature.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes.

Case presentation

We identified two heterozygous missense variants of GPR3: NM_005281: c.C973T (p.R325C) and c.G772A (p.A258T) in two sporadic Han Chinese POI cases through whole exome sequencing and genetic analysis. The two patients were diagnosed as POI in their late 20s, presenting elevated serum levels of follicle stimulating hormone and secondary amenorrhea. Both variants are very rare in the population databases of ExAC, gnomAD and PGG.Han. The affected amino acids are conserved across species and the mutated amino acids are predicted deleterious with bioinformatics prediction tools and the protein three-dimensional structure analysis.

Conclusions

It is the first report of rare GPR3 variants associated with POI women, providing an important piece of evidence for GPR3 as a candidate gene which should be screened in POI. This finding suggested the necessity of including GPR3 in etiology study and genetic counseling of POI patients.

SUBMITTER: Ren S

PROVIDER: S-EPMC10623876 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature

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Publications

Rare variants in GPR3 in POI patients: a case series with review of literature.

Ren Shuting S Zhang Feng F Shang Lingyue L Yang Xi X Pan Yuncheng Y Zhang Xiaojin X Wu Yanhua Y

Journal of ovarian research 20231103 1

<h4>Background</h4>Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes.<h4>Case presentation</h4>We identified two heterozygous missense variants of GPR3: NM_005281: c.C973T (p.R325C) and c.G772A (p.A258T) in two sporadic Han Chinese POI cases through whole exome sequencing and genet ...[more]

PMID: 37919810

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Project description:BackgroundCardiac damage is common in patients with acute brain injury; however, little is known regarding cardiac-induced neurological symptoms. In the International Classification of Headache, Third Edition (ICHD-III), cardiac cephalalgia is classified as a headache caused by impaired homeostasis.MethodsThis report presents four patients with acute myocardial infarction (AMI) who presented with headache that fulfilled the ICHD-III diagnostic criteria for cardiac cephalalgia. A systematic review of cardiac cephalalgia using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines is also presented.ResultsCase 1: A 69-year-old man with a history of percutaneous coronary intervention (PCI) developed sudden severe occipital pain, nausea, and cold sweating. Coronary angiography (CAG) revealed occlusion of the right coronary artery (RCA). Case 2: A 66-year-old woman complained of increasing occipitalgia and chest discomfort while riding a bicycle. CAG demonstrated 99% stenosis of the left anterior descending artery. Case 3: A 54-year-old man presented with faintness, cold sweating, and occipitalgia after eating lunch. CAG detected occlusion of the RCA. Case 4: A 72-year-old man went into shock after complaining of a sudden severe headache and nausea. Vasopressors were initiated and emergency CAG was performed, which detected three-vessel disease. In all four, electrocardiography (ECG) showed ST segment elevation or depression and echocardiography revealed a left ventricular wall motion abnormality. All patients underwent PCI, which resulted in headache resolution after successful coronary reperfusion. A total of 59 cases of cardiac cephalalgia were reviewed, including the four reported here. Although the typical manifestation of cardiac cephalalgia is migraine-like pain on exertion, it may present with thunderclap headache without a trigger or chest symptoms, mimicking subarachnoid hemorrhage. ECG may not always show an abnormality. Headaches resolve after successful coronary reperfusion.ConclusionsCardiac cephalalgia resulting from AMI can present with or without chest discomfort and even mimic the classic thunderclap headache associated with SAH. It should be recognized as a neurological emergency and treated without delay.

Dataset Information

Rare variants in GPR3 in POI patients: a case series with review of literature.

Background

Case presentation

Conclusions

Publications

Rare variants in GPR3 in POI patients: a case series with review of literature.

Similar Datasets

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