ArticleThe New England journal of medicine2013
Mutant prolactin receptor and familial hyperprolactinemia.
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Article in The New England journal of medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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41citing papers in PubMed, 1 pooled it
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41 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
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- Prolactin: A Mammalian Stress Hormone and Its Role in Cutaneous Pathophysiology.International journal of molecular sciences · 2024Review
- The Ser434PheThe application of clinical genetics · 2024Article
- Beta-cell compensation and gestational diabetes.The Journal of biological chemistry · 2023Review
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- Identification of prolactin receptor variants with diverse effects on receptor signalling.Journal of molecular endocrinology · 2023Article
- Hyperprolactinaemia is common in Chinese premenopausal women with breast diseases.Frontiers in genetics · 2023Article
- Italian Association of Clinical Endocrinologists (AME) and International Chapter of Clinical Endocrinology (ICCE). Position statement for clinical practice: prolactin-secreting tumors.European journal of endocrinology · 2022Article
- Is prolactin receptor signaling a target in dopamine-resistant prolactinomas?Frontiers in endocrinology · 2022Review
- The Expression of Prolactin Receptors in Benign Breast Tumors Is Not Associated with Serum Prolactin Level.Journal of clinical medicine · 2021Article
- Genetic analysis of the cooperative tumorigenic effects of targeted deletions of tumor suppressorsOncotarget · 2020Article
- Review
- In silico prediction of prolactin molecules as a tool for equine genomics reproduction.Molecular diversity · 2019Article
- Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National SurveyJournal of clinical research in pediatric endocrinology · 2019Article
- Association of prolactin receptor (PRLR) variants with prolactinomas.Human molecular genetics · 2019Article
- Article
- Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.Human molecular genetics · 2018Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Paul J Newey *Academic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Caroline M Gorvin *Academic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Stephen J ClelandAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Christian B WillbergAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Marcus BridgeAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Mohammed AzharuddinAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Russell S DrummondAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
P Anton van der MerweAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Paul KlenermanAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Chas BountraAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Rajesh V ThakkerAcademic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.
Glasgow Royal Infirmary · GBMedawar Building for Pathogen Research · GBUniversity of Oxford · GB
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kMedical Research Council G1000467Medical Research Council G1000467/2010Medical Research Council G19/31Medical Research Council G9825289NHLBI NIH HHS HL-102923NHLBI NIH HHS HL-102924NHLBI NIH HHS HL-102925NHLBI NIH HHS HL-102926NHLBI NIH HHS HL-103010NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010Wellcome Trust 091663Wellcome Trust WT091663MA
Abstract
Hyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia syndromes. Here, we report data from three sisters with hyperprolactinemia, two of whom presented with oligomenorrhea and one with infertility. These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). This substitution disrupted the high-affinity ligand-binding interface of the prolactin receptor, resulting in a loss of downstream signaling by Janus kinase 2 (JAK2) and signal transducer and activator of transcription 5 (STAT5). Thus, the familial hyperprolactinemia appears to be due to a germline, loss-of-function mutation in PRLR, resulting in prolactin insensitivity.
Indexed as
Germ-Line MutationAdultFemaleHumansHyperprolactinemiaJanus Kinase 2MalePedigreeProtein ConformationReceptors, ProlactinSequence Analysis, DNASignal TransductionSTAT5 Transcription FactorJanus Kinase 2Receptors, ProlactinSTAT5 Transcription Factor
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