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[PMID]: 29464731
[Au] Autor:Pereda A; Martos-Tello JM; Garin I; Errea-Dorronsoro J; de Nanclares GP
[Ad] Address:Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Spain.
[Ti] Title:Progressive osseous heteroplasia caused by a mosaic gnas mutation.
[So] Source:Clin Endocrinol (Oxf);, 2018 Feb 21.
[Is] ISSN:1365-2265
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Progressive osseous heteroplasia (POH, OMIM#166350) is an "ultrarare" genetic condition characterized by plaque-like heterotopic ossification, beginning in infancy in the dermis and subsequently progressing to involve deep connective tissues such as muscles and joints, sometimes resulting in loss of mobility . It is usually associated with paternal inheritance of an inactivating mutation at the GNAS gene but in some patients (around 30% of cases) with identical clinical characteristics of POH no mutations have been detected . On the other hand, the same mutation on the paternal allele can be responsible for pseudopseudohypoparathyroidism (PPHP, OMIM#612463), or, if maternally inherited, pseudohypoparathyroidism type 1A (PHP1A, OMIM#103580) This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:Publisher
[do] DOI:10.1111/cen.13584

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[PMID]: 29429567
[Au] Autor:Benvenuto P; Attarian A
[Ad] Address:Department of Radiology Montreal Children's Hospital McGill University Health Centre (MUHC) Montreal, Canada.
[Ti] Title:Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly.
[So] Source:J Pediatr;, 2018 Feb 08.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher

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[PMID]: 29059381
[Au] Autor:Salemi P; Skalamera Olson JM; Dickson LE; Germain-Lee EL
[Ad] Address:Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD.
[Ti] Title:Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.
[So] Source:J Clin Endocrinol Metab;, 2017 Oct 19.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multi-hormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCO) are a source of significant morbidity in both PHP1A and PPHP. Objective: This study investigated the previously undetermined prevalence of SCO formation in PHP1A versus PPHP as well as possible correlations with genotype, sex, age, hormonal resistance, and BMI. Design: This study evaluated AHO patients for SCO by physical examination performed by one consistent physician over sixteen years. Setting: Albright Clinic, Kennedy Krieger Institute; Institute for Clinical and Translational Research, Johns Hopkins Hospital; Albright Center, Connecticut Children's Medical Center. Patients: We evaluated 67 AHO patients (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS. Interventions: N/A. Main Outcome Measures: Relationships of SCO to genotype, sex, age, hormonal resistance, and BMI. Results: Forty-seven of 67 participants (70.1%) had SCO. PHP1A and PPHP subjects had similar prevalences and degrees of ossification formation. Subjects with frameshift and nonsense mutations had much more extensive SCO than those with missense mutations. Males were affected more than females. There was no correlation with hormonal status or BMI. Conclusions: There is a similar prevalence of SCO in PHP1A and PPHP, and the extent of SCO formation correlates with the severity of the mutation. Males are affected more extensively than females, and the SCO tend to worsen with age.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-00860

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[PMID]: 28648114
[Au] Autor:Garcia C; Correia CR; Lopes L
[Ad] Address:a Department of Pediatrics , Hospital Professor Doutor Fernando Fonseca, EPE , Lisbon , Portugal.
[Ti] Title:Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
[So] Source:Paediatr Int Child Health;:1-4, 2017 Jun 26.
[Is] ISSN:2046-9055
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170626
[Lr] Last revision date:170626
[St] Status:Publisher
[do] DOI:10.1080/20469047.2017.1341730

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[PMID]: 28162874
[Au] Autor:Batla A; Tai XY; Schottlaender L; Erro R; Balint B; Bhatia KP
[Ad] Address:UCL Institute of Neurology, Queen Square, London, UK.
[Ti] Title:Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
[So] Source:Parkinsonism Relat Disord;37:1-10, 2017 Apr.
[Is] ISSN:1873-5126
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. METHODS: We performed a Medline search, from 1st Jan 2012 through to 7th November 2016, for publications with confirmed mutations of SCL20A2, PDGFB, PDGFRB, and XPR1 and found twenty papers with 137 eligible cases. A second search was done for publications of cases with Pseudohypoparathyroidism or pseudopseudohypoparathyroidism, and found 18 publications with 20 eligible cases. RESULTS: SLC20A2 was the most common gene involved with 75 out of 137 cases included with PFBC (55%) followed by PDGFB (31%) and PDGFRB (11%). Statistically significant correlation was found between the presence of parkinsonism with SLC20A2 mutations, headache in PDGFB and generalised tonic-clonic seizures in patients with pseudohypoparathyroidism. CONCLUSION: We combine statistical analysis and clinical inference to suggest a diagnostic algorithm based on the observations in this study to help with investigation of a patient with neurological features and brain calcification.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1702
[Cu] Class update date: 170325
[Lr] Last revision date:170325
[St] Status:In-Process

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[PMID]: 28073519
[Au] Autor:Pereda A; González Oliva E; Riaño-Galán I; Pérez de Nanclares G
[Ad] Address:Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, Hospital Universitario Araba-Txagorritxu, BioAraba, Vitoria-Gasteiz, Álava, España.
[Ti] Title:Fe de errores de «Seudoseudohipoparatiroidismo frente a heteroplasia ósea progresiva en ausencia de historia familiar¼ [Med Clin (Barc). 2015;145(10):e25-e27]. Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history¼.
[So] Source:Med Clin (Barc);148(4):194, 2017 Feb 23.
[Is] ISSN:1578-8989
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1701
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[St] Status:In-Data-Review

  7 / 297 MEDLINE  
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[PMID]: 27995443
[Au] Autor:Tafaj O; Jüppner H
[Ad] Address:Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Thier 10, 50 Blossom Street, Boston, MA, 02114, USA.
[Ti] Title:Pseudohypoparathyroidism: one gene, several syndromes.
[So] Source:J Endocrinol Invest;40(4):347-356, 2017 Apr.
[Is] ISSN:1720-8386
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia. When located on the paternal allele, the same or similar GNAS mutations are the cause of PPHP. Besides biochemical abnormalities, patients affected by PHP1A show developmental abnormalities, referred to as Albrights hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss-of-methylation (LOM) at exon A/B alone or at all maternally methylated GNAS exons. LOM at exon A/B and the resulting biallelic expression of A/B transcripts reduces Gsα expression, thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, the most frequent disease variant, which remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q).
[Mh] MeSH terms primary: Epigenesis, Genetic/genetics
GTP-Binding Protein alpha Subunits, Gs/genetics
Pseudohypoparathyroidism/genetics
[Mh] MeSH terms secundary: Animals
Humans
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
[Em] Entry month:1708
[Cu] Class update date: 171115
[Lr] Last revision date:171115
[Js] Journal subset:IM
[Da] Date of entry for processing:161221
[St] Status:MEDLINE
[do] DOI:10.1007/s40618-016-0588-4

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[PMID]: 27813477
[Au] Autor:Silve C
[Ad] Address:Service de Génétique et Biochimie Moléculaires, AP-HP Hôpital Cochin, Paris, France et Centre de référence des maladies rares du métabolisme phosphocalcique, Filière OSCAR  - UMR-S 1169 Inserm-UP Sud, Le Kremlin-Bicêtre, France.
[Ti] Title:Gènes de régulation de la voie de l'AMPc, résistance hormonale et dysplasie squelettique. [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
[So] Source:Biol Aujourdhui;210(3):167-170, 2016.
[Is] ISSN:2105-0686
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a. Defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsa-cAMP-PKA signaling, were recently identified in patients affected with acrodysostosis. This has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: acrodysostosis type 1 due to PRKAR1A defects, and acrodysostosis type 2, due to PDE4D defects. The existence of hormone resistance is typical of the acrodysostosis type 1 syndrome. We discuss here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, in particular in regard to phenotypically related diseases caused by Gsa gene defects in the same signaling pathway.
[Mh] MeSH terms primary: Cyclic AMP/metabolism
Drug Resistance/genetics
Dysostoses/genetics
Hormones/pharmacology
Intellectual Disability/genetics
Osteochondrodysplasias/genetics
[Mh] MeSH terms secundary: Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics
Cyclic Nucleotide Phosphodiesterases, Type 4/genetics
Dysostoses/complications
Dysostoses/metabolism
Humans
Intellectual Disability/complications
Intellectual Disability/metabolism
Mutation
Osteochondrodysplasias/complications
Osteochondrodysplasias/metabolism
Pseudohypoparathyroidism/genetics
Receptors, G-Protein-Coupled/genetics
Signal Transduction/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (Hormones); 0 (PRKAR1A protein, human); 0 (Receptors, G-Protein-Coupled); E0399OZS9N (Cyclic AMP); EC 3.1.4.17 (Cyclic Nucleotide Phosphodiesterases, Type 4)
[Em] Entry month:1701
[Cu] Class update date: 170130
[Lr] Last revision date:170130
[Js] Journal subset:IM
[Da] Date of entry for processing:161105
[St] Status:MEDLINE

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[PMID]: 26671181
[Au] Autor:Zhu Y; He Q; Aydin C; Rubera I; Tauc M; Chen M; Weinstein LS; Marshansky V; Jüppner H; Bastepe M
[Ad] Address:Endocrine Unit (Z.Y., Q.H., C.A., H.J., M.B.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; Department of Endodontics (C.A.), Gülhane Military Medical Academy, 06018 Ankara, Turkey; Faculty of Medicine (I.R., M.T.), Université de Nice Sophia Antipolis, 0610
[Ti] Title:Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.
[So] Source:Endocrinology;157(2):497-507, 2016 Feb.
[Is] ISSN:1945-7170
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PTH regulates serum calcium, phosphate, and 1,25-dihydroxyvitamin D (1,25(OH)2D) levels by acting on bone and kidney. In renal proximal tubules (PTs), PTH inhibits reabsorption of phosphate and stimulates the synthesis of 1,25(OH)2D. The PTH receptor couples to multiple G proteins. We here ablated the α-subunit of the stimulatory G protein (Gsα) in mouse PTs by using Cre recombinase driven by the promoter of type-2 sodium-glucose cotransporter (Gsα(Sglt2KO) mice). Gsα(Sglt2KO) mice were normophosphatemic but displayed, relative to controls, hypocalcemia (1.19 ±0.01 vs 1.23 ±0.01 mmol/L; P < .05), reduced serum 1,25(OH)2D (59.3 ±7.0 vs 102.5 ±12.2 pmol/L; P < .05), and elevated serum PTH (834 ±133 vs 438 ±59 pg/mL; P < .05). PTH-induced elevation in urinary cAMP excretion was blunted in Gsα(Sglt2KO) mice (2- vs 4-fold over baseline in controls; P < .05). Relative to baseline in controls, PTH-induced reduction in serum phosphate tended to be blunted in Gsα(Sglt2KO) mice (-0.39 ±0.33 vs -1.34 ±0.36 mg/dL; P = .07). Gsα(Sglt2KO) mice showed elevated renal vitamin D 24-hydroxylase and bone fibroblast growth factor-23 (FGF23) mRNA abundance (∼3.4- and ∼11-fold over controls, respectively; P < .05) and tended to have elevated serum FGF23 (829 ±76 vs 632 ±60 pg/mL in controls; P = .07). Heterozygous mice having constitutive ablation of the maternal Gsα allele (E1(m-/+)) (model of pseudohypoparathyroidism type-Ia), in which Gsα levels in PT are reduced, also exhibited elevated serum FGF23 (474 ±20 vs 374 ±27 pg/mL in controls; P < .05). Our findings indicate that Gsα is required in PTs for suppressing renal vitamin D 24-hydroxylase mRNA levels and for maintaining normal serum 1,25(OH)2D.
[Mh] MeSH terms primary: Drug Resistance/genetics
GTP-Binding Protein alpha Subunits/genetics
Kidney Tubules, Proximal/metabolism
Parathyroid Hormone/pharmacology
Pseudopseudohypoparathyroidism/genetics
Vitamin D3 24-Hydroxylase/genetics
Vitamin D/analogs & derivatives
[Mh] MeSH terms secundary: Animals
Disease Models, Animal
Down-Regulation/genetics
Female
Kidney Tubules, Proximal/pathology
Male
Mice
Mice, Knockout
Parathyroid Hormone/metabolism
Pseudopseudohypoparathyroidism/pathology
RNA, Messenger/metabolism
Up-Regulation/genetics
Vitamin D/blood
Vitamin D3 24-Hydroxylase/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Nm] Name of substance:0 (GTP-Binding Protein alpha Subunits); 0 (Parathyroid Hormone); 0 (RNA, Messenger); 1406-16-2 (Vitamin D); 66772-14-3 (1,25-dihydroxyvitamin D); EC 1.14.15.16 (Cyp24a1 protein, mouse); EC 1.14.15.16 (Vitamin D3 24-Hydroxylase)
[Em] Entry month:1606
[Cu] Class update date: 170201
[Lr] Last revision date:170201
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:151217
[St] Status:MEDLINE
[do] DOI:10.1210/en.2015-1639

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[PMID]: 26349724
[Au] Autor:Füeßl HS
[Ad] Address:, .
[Ti] Title:Pseudopseudohypoparathyreoidismus. [Pseudopseudohypoparathyroidism].
[So] Source:MMW Fortschr Med;157(15):42, 2015 Sep 10.
[Is] ISSN:1438-3276
[Cp] Country of publication:Germany
[La] Language:ger
[Mh] MeSH terms primary: Hand Bones/diagnostic imaging
Pseudohypoparathyroidism/diagnostic imaging
Pseudopseudohypoparathyroidism/diagnostic imaging
[Mh] MeSH terms secundary: Humans
Male
Radiography
[Pt] Publication type:JOURNAL ARTICLE; COMMENT
[Em] Entry month:1512
[Cu] Class update date: 161125
[Lr] Last revision date:161125
[Js] Journal subset:IM
[Da] Date of entry for processing:150910
[St] Status:MEDLINE
[do] DOI:10.1007/s15006-015-3494-3


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