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Title: Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.
Authors: Perez-Nanclares, Gustavo
Velayos, Teresa
Vela, Amaya
Muñoz-Torres, Manuel
Castaño, Luis
metadata.dc.contributor.authoraffiliation: [Perez-Nanclares,G; Velayos,T; Vela,A; Castaño,L] Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain. [Muñoz-Torres,M] Clinical Management Unit of Endocrinology and Nutrition, Hospital Universitario San Cecilio, Instituto de Investigacion Biosanitaria de Granada, Granada, Spain.
Keywords: Adulto;Femenino;Subunidades alfa de la Proteína de Unión al GTP Gs;Duplicación de gen;Masculino;Seudohipoparatiroidismo;Adolescente
metadata.dc.subject.mesh: Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Heterotrimeric GTP-Binding Proteins::GTP-Binding Protein alpha Subunits
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Gene Duplication
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Pseudohypoparathyroidism
Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
Issue Date: 24-Feb-2015
Publisher: Public Library of Science
Citation: Perez-Nanclares G, Velayos T, Vela A, Muñoz-Torres M, Castaño L. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. PLoS ONE; 10(2):e0117691
Abstract: CONTEXT: Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype. OBJECTIVE: The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib. DESIGN: We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib. RESULTS: We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising ∼ 320 kb, occurred 'de novo' in the patient, whereas the other one, of ∼ 179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed. CONCLUSION: In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both areassociated to PHP-Ib, one of them occurring 'de novo' and the other one being maternally inherited.
Description: Case Reports; Journal Article; Research Support, Non-U.S. Gov't;
metadata.dc.identifier.doi: 10.1371/journal.pone.0117691
ISSN: 1932-6203 (Online)
Appears in Collections:01- Artículos - Complejo Hospitalario Universitario de Granada
01- Artículos - ibsGRANADA. Instituto de Investigación Biosanitaria de Granada

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