Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

Article Endocrinology & Metabolism

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism

I Mazarico-Altisent et al.

Summary: New germline mutations in CDKIs have been identified in patients with primary hyperparathyroidism (PHPT), highlighting the importance of including CDKIs in genetic testing for PHPT.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2023)

添加到收藏夹

Review Endocrinology & Metabolism

Molecular and Clinical Spectrum of Primary Hyperparathyroidism

Smita Jha et al.

Summary: Recent data show an increase in the incidence of parathyroid disorders, particularly primary hyperparathyroidism (PHPT). PHPT is associated with various complications and increased mortality risk. Diagnosis of PHPT can be delayed due to nonspecific symptoms. Heritable forms of PHPT require active surveillance, and genetic testing should be offered to specific patient populations. However, the genetic cause for the majority of heritable forms remains unknown. Distinguishing between sporadic and heritable forms has implications for surgical planning and family management. Furthermore, the molecular characteristics of parathyroid tumors can provide valuable insights for diagnosis and therapy.

ENDOCRINE REVIEWS (2023)

添加到收藏夹

Article Cell & Tissue Engineering

p Generation of an induced pluripotent stem cell line CSSi015-A (9553) , carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

Giovannina Rotundo et al.

Summary: Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene. This disease is characterized by significant hypercalcemia, inappropriately normal serum PTH levels, and a low urinary calcium level. Human induced pluripotent stem cells (hiPSCs) carrying a specific heterozygous mutation in the cytoplasmic tail of the CaSR gene were successfully generated using a virus-free, xeno-free, and non-integrative protocol.

STEM CELL RESEARCH (2023)

添加到收藏夹

Review Endocrinology & Metabolism

Overview of 2022 WHO Classification of Parathyroid Tumors

Lori A. Erickson et al.

Summary: The 2022 WHO classification reflects advancements in the understanding of the underlying pathogenesis of parathyroid disease. It emphasizes the importance of genetic abnormalities and introduces new terms and entities to accurately classify parathyroid tumors. Additionally, researchers recommend the use of molecular immunohistochemistry to further explore the disease.

ENDOCRINE PATHOLOGY (2022)

添加到收藏夹

Article Endocrinology & Metabolism

Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes

Vania Nose et al.

Summary: This article reviews the familial tumor syndromes involving the endocrine organs, focusing on the updates in the upcoming fifth edition of the WHO Classification of Endocrine and Neuroendocrine Tumors. It discusses the histopathological and molecular genetics aspects of these syndromes, including newly defined familial cancer syndromes and reported findings in DICER1 syndrome. The article also covers updates on syndromic and non-syndromic familial thyroid diseases. The importance of diagnostic criteria, potential genes involved, and immunohistochemical studies supporting diagnosis are emphasized. The article highlights the role of pathologists in identifying tumors within familial cancer syndromes and the challenges in defining these entities and determining their clinical outcome.

ENDOCRINE PATHOLOGY (2022)

添加到收藏夹

Article Genetics & Heredity

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Vinayak Khattar et al.

Summary: TRPV6 is a calcium-selective channel that plays critical roles in cellular calcium transport, maintaining low calcium environment, and certain biological processes. Its function and expression are regulated by vitamin D, dietary calcium, and physiological conditions. Loss of function and aberrant expression of TRPV6 are associated with various human diseases.

GENE (2022)

添加到收藏夹

Article Endocrinology & Metabolism

Genetic study in primary hyperparathyroidism: Which patients and which genes to study?

Ismael Capel et al.

Endocrinologia Diabetes y Nutricion (2022)

添加到收藏夹

Review Endocrinology & Metabolism

Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism

Salvatore Minisola et al.

Summary: This narrative review provides an overview of the epidemiology, pathophysiology, and genetics of primary hyperparathyroidism (PHPT). PHPT primarily affects postmenopausal women, but its prevalence and incidence vary globally. Parathyroid hormone plays a key role in regulating calcium homeostasis, and the pathophysiological basis of PHPT involves abnormal proliferation of parathyroid cells and reduced expression of calcium-sensing receptors. The severity of skeletal disease in PHPT depends on the degree of dysregulated bone remodeling. Genetic factors contribute to approximately 10% of PHPT cases, including multiple endocrine neoplasia syndromes, hyperparathyroidism jaw-tumor syndrome, and isolated endocrinopathies.

JOURNAL OF BONE AND MINERAL RESEARCH (2022)

添加到收藏夹

Article Endocrinology & Metabolism

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

Arnaud Lagarde et al.

Summary: The study systematically looked for MEN1 mosaicism using digital targeted NGS method and identified 17% detection rate of MEN1 mosaicism in patients with at least 3 MEN1 lesions.

ENDOCRINE CONNECTIONS (2022)

添加到收藏夹

Review Endocrinology & Metabolism

A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes

Sunita M. C. De Sousa et al.

Summary: In patients with suspected hyperparathyroidism syndromes, the positive genetic testing rate ranges from 15-26%. Testing for variants in genes associated with PHPT (MEN1, CDC73, RET, CDKN1B, GCM2, CASR) and/or FHH (CASR, GNA11, AP2S1) is recommended based on specific testing criteria met. Pre- and post-test counseling should be provided for patients, including consideration of potential implications for family members.

ENDOCRINE (2022)

添加到收藏夹

Article Endocrinology & Metabolism

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

Amanda J. Seabrook et al.

Summary: Pathogenic germline MAX variants are associated with multiple tumors including pheochromocytoma, ganglioneuroma, neuroblastoma, and pituitary neuroendocrine tumors. Clinical, genetic, immunohistochemical, and functional studies on affected families confirmed the associations. Immunohistochemistry and functional studies provided additional evidence for the roles of MAX variants in tumor development.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Hereditary Primary Hyperparathyroidism

Paul J. Newey

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2021)

添加到收藏夹

Review Endocrinology & Metabolism

Familial Hyperparathyroidism

Jenny E. Blau et al.

Summary: The regulation of serum calcium levels in humans involves the endocrine action of the parathyroid glands, vitamin D, and various target cells and tissues. Primary hyperparathyroidism is a disorder of mineral metabolism typically associated with elevated serum calcium and can be caused by uncontrolled release of parathyroid hormone from abnormal glands, sometimes linked to genetic mutations. Further research into familial HPT lacking known predisposition genes holds promise for the discovery of novel genes related to parathyroid tumor development.

FRONTIERS IN ENDOCRINOLOGY (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Human TRPV6-pathies caused by gene mutations

Verena Nett et al.

Summary: The TRP family of ion channels consists of 27 members in humans, most of which are non-selective cation channels. TRPV5 and TRPV6 exhibit high permeability for Ca2+ ions, with a functional channel formed by 4 identical subunits. Mutations in the human TRPV6 gene can alter channel function, leading to elevated blood levels of parathyroid hormone and possibly triggering nonalcoholic chronic pancreatitis.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients

Celine Mouly et al.

CLINICAL ENDOCRINOLOGY (2020)

添加到收藏夹

Article Physiology

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

Yoshiro Suzuki et al.

JOURNAL OF PHYSIOLOGICAL SCIENCES (2020)

添加到收藏夹

Article Endocrinology & Metabolism

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

Yasmine El Allali et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2020)

添加到收藏夹

Review Oncology

Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors

Filomena Cetani et al.

ENDOCRINE-RELATED CANCER (2019)

添加到收藏夹

Review Endocrinology & Metabolism

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

Anja Frederiksen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

添加到收藏夹

Review Endocrinology & Metabolism

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective

Stephen J. Marx et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2019)

添加到收藏夹

Article Genetics & Heredity

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Yoshiro Suzuki et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

添加到收藏夹

Article Surgery

Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism

Mustapha El Lakis et al.

JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS (2018)

添加到收藏夹

Article Endocrinology & Metabolism

Genetics of parathyroids disorders: Overview

Alberto Falchetti

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

添加到收藏夹

Review Endocrinology & Metabolism

Primary Hyperparathyroidism

John P. Bilezikian

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

Elena Pardi et al.

PLOS ONE (2017)

添加到收藏夹

Article Genetics & Heredity

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Bin Guan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

添加到收藏夹

Article Medicine, General & Internal

Genetics of parathyroid tumours

R. V. Thakker

JOURNAL OF INTERNAL MEDICINE (2016)

添加到收藏夹

Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

添加到收藏夹

Review Endocrinology & Metabolism

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature

Nikolaos Pontikides et al.

JOURNAL OF BONE AND MINERAL METABOLISM (2014)

添加到收藏夹

Article Endocrinology & Metabolism

Guidelines for the Management of Asymptomatic Primary Hyperparathyroidism: Summary Statement from the Fourth International Workshop

John P. Bilezikian et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

添加到收藏夹

Article Endocrinology & Metabolism

Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop

Richard Eastell et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

添加到收藏夹

Review Cell Biology

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)

Rajesh V. Thakker

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)

添加到收藏夹

Article Endocrinology & Metabolism

Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations Occur Rarely in Sporadic Parathyroid Adenomas

Elena Pardi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Fadil M. Hannan et al.

HUMAN MOLECULAR GENETICS (2012)

添加到收藏夹

Article Endocrinology & Metabolism

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

Rajesh V. Thakker et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

添加到收藏夹

Article Oncology

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

Lee F. Starker et al.

HORMONES & CANCER (2012)

添加到收藏夹

Article Endocrinology & Metabolism

Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States

Sunita K. Agarwal et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

添加到收藏夹

Article Endocrinology & Metabolism

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome

Noriko Mizusawa et al.

CLINICAL ENDOCRINOLOGY (2006)

添加到收藏夹

Article Endocrinology & Metabolism

Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management

F Cetani et al.

CLINICAL ENDOCRINOLOGY (2006)

添加到收藏夹

Article Genetics & Heredity

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

J Warner et al.

JOURNAL OF MEDICAL GENETICS (2004)

添加到收藏夹

Article Endocrinology & Metabolism

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome

WF Simonds et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)

添加到收藏夹

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

相关参考文献

导出引文

分享论文