Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Gain of Function Mutation Receptors, Calcium-Sensing / genetics Calcium Research Mutation
ADH1 CASR gene autosomal dominant hypocalcemia familial hypocalcemic hypercalciuria gain of function mutation hypoparathyroidism

Journal

Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782

Informations de publication

Date de publication:
2023
Historique:
received: 01 05 2023
accepted: 20 06 2023
medline: 4 9 2023
pubmed: 1 9 2023
entrez: 1 9 2023
Statut: epublish

Résumé

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (

Identifiants

DOI: 10.3389/fendo.2023.1215036 PMID: 37654565 PMC: PMC10466028
pubmed: 37654565
doi: 10.3389/fendo.2023.1215036
pmc: PMC10466028
doi:

Substances chimiques

Receptors, Calcium-Sensing 0
Calcium SY7Q814VUP

Types de publication

Systematic Review Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

1215036

Informations de copyright

Copyright © 2023 Ali, Marini, Alsarraf, Alalwani, Alamri, Khan and Brandi.

Déclaration de conflit d'intérêts

AK: has received research grants from Alexion, Amgen, Ascendis, Chugai, Radius, Takeda, and Ultragenyx, and is on the advisory board for Amgen, Amolyt, and Takeda; MB: has received honoraria from Amgen, Bruno Farmaceutici, Calcilytix, Kyowa Kirin, and UCB; Grants and/or speaker: Abiogen, Alexion, Amgen, Amolyt, Amorphical, Bruno Farmaceutici, CoGeDi, Echolight, Eli Lilly, Enterabio, Gedeon Richter, Italfarmaco, Kyowa Kirin, Menarini, Monte Rosa, SPA, Takeda, Theramex, UCB; Consultant: Aboca, Alexion, Amolyt, Bruno Farmaceutici, Calcilytix, Echolight, Kyowa Kirin, Personal Genomics, UCB. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

J Bone Miner Res. 2009 May;24(5):964-73
pubmed: 19063686
J Mol Endocrinol. 2019 Aug;63(2):R1-R16
pubmed: 31189130
N Engl J Med. 1996 Oct 10;335(15):1115-22
pubmed: 8813042
J Bone Miner Res. 2022 Oct;37(10):1926-1935
pubmed: 35879818
J Clin Endocrinol Metab. 1997 Aug;82(8):2710-5
pubmed: 9253358
Nat Rev Dis Primers. 2017 Aug 31;3:17055
pubmed: 28857066
Front Physiol. 2016 Oct 18;7:458
pubmed: 27803672
J Clin Endocrinol Metab. 2001 Nov;86(11):5313-23
pubmed: 11701698
J Bone Miner Res. 2019 Sep;34(9):1609-1618
pubmed: 31063613
Clin Endocrinol (Oxf). 2011 Dec;75(6):760-5
pubmed: 21645025
J Clin Endocrinol Metab. 2021 Jun 16;106(7):1900-1917
pubmed: 33788935
J Clin Endocrinol Metab. 1998 Jul;83(7):2497-502
pubmed: 9661634
N Engl J Med. 2021 Jul 8;385(2):189-191
pubmed: 34233101
J Clin Endocrinol Metab. 1998 Jul;83(7):2366-72
pubmed: 9661610
Am J Hum Genet. 2020 Jun 4;106(6):734-747
pubmed: 32386559
J Clin Endocrinol Metab. 2003 Aug;88(8):3674-81
pubmed: 12915654
Acta Paediatr. 2014 Nov;103(11):1117-25
pubmed: 25039540
Am J Physiol Renal Physiol. 2004 Jun;286(6):F1005-11
pubmed: 15130894
Lancet. 1969 Dec 13;2(7633):1280-3
pubmed: 4187984
Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):E3749-E3758
pubmed: 29618612
Quant Imaging Med Surg. 2015 Aug;5(4):628-32
pubmed: 26435928
J Endocr Soc. 2022 Mar 18;6(5):bvac042
pubmed: 35402765
J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8
pubmed: 24297799
Am J Hum Genet. 2013 Jun 6;92(6):990-5
pubmed: 23684011
Hum Mutat. 2000 Oct;16(4):281-96
pubmed: 11013439
Eur J Endocrinol. 2019 Jan 1;180(1):59-70
pubmed: 30407919
Hum Mol Genet. 1996 May;5(5):601-6
pubmed: 8733126
J Bone Miner Res. 2023 Jan;38(1):14-25
pubmed: 36271471
Am J Med Genet A. 2006 Jan 1;140(1):98-101
pubmed: 16333828
Kidney Blood Press Res. 1998;21(6):401-12
pubmed: 9933824
J Bone Miner Res. 2022 Dec;37(12):2630-2641
pubmed: 36066096
Eur J Endocrinol. 2019 Mar;180(3):P1-P22
pubmed: 30540559
Nature. 1993 Dec 9;366(6455):575-80
pubmed: 8255296
Clin Endocrinol (Oxf). 2012 Aug;77(2):200-6
pubmed: 22288727
Clin Exp Nephrol. 2016 Apr;20(2):253-7
pubmed: 26323216
Nat Genet. 1994 Nov;8(3):303-7
pubmed: 7874174
Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):359-71
pubmed: 23856265
Front Endocrinol (Lausanne). 2018 Apr 25;9:200
pubmed: 29743878
J Clin Endocrinol Metab. 2000 Dec;85(12):4583-91
pubmed: 11134112
Eur J Endocrinol. 2016 May;174(5):R189-208
pubmed: 26646938
J Pediatr. 2018 Dec;203:391-399.e1
pubmed: 30470382
Physiol Rev. 2001 Jan;81(1):239-297
pubmed: 11152759
Hum Mol Genet. 2012 Jun 15;21(12):2768-78
pubmed: 22422767

Auteurs

Dalal S Ali (DS)

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.

Francesca Marini (F)

Fondazione Italiana Ricerca sulle Malattie dell'Osso (FIRMO) Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.

Farah Alsarraf (F)

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.

Hatim Alalwani (H)

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.

Abdulrahman Alamri (A)

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.

Aliya A Khan (AA)

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.

Maria Luisa Brandi (ML)

Fondazione Italiana Ricerca sulle Malattie dell'Osso (FIRMO) Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.
Donatello Bone Clinic, Villa Donatello Hospital, Sesto Fiorentino, Italy.

Articles similaires

Spatial multiplex analysis of lung cancer reveals that regulatory T cells attenuate KRAS-G12C inhibitor-induced immune responses.

Megan Cole, Panayiotis Anastasiou, Claudia Lee et al.
1.00
T-Lymphocytes, Regulatory Lung Neoplasms Proto-Oncogene Proteins p21(ras) Animals Humans

Pathogenic mitochondrial DNA mutations inhibit melanoma metastasis.

Spencer D Shelton, Sara House, Luiza Martins Nascentes Melo et al.
1.00
DNA, Mitochondrial Humans Melanoma Mutation Neoplasm Metastasis

Trace elements in psoriasis presentation and treatment.

Pratiksha Patra, Tyler Harrison
1.00
Psoriasis Humans Magnesium Zinc Trace Elements

Prevalence and implications of fragile X premutation screening in Thailand.

Areerat Hnoonual, Sunita Kaewfai, Chanin Limwongse et al.
1.00
Humans Fragile X Mental Retardation Protein Thailand Male Female

Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › Case Report: Calcium sensing receptor gene...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs couplés aux protéines G › Récepteurs-détecteurs du calcium › Case Report: Calcium sensing receptor gene...
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › Case Report: Calcium sensing receptor gene...
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Case Report: Calcium sensing receptor gene...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Case Report: Calcium sensing receptor gene...