@misc{10481/35155,
year = {2015},
url = {http://hdl.handle.net/10481/35155},
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.},
abstract = {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.},
abstract = {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.},
abstract = {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.},
abstract = {Conclusion:

In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring ‘de novo’ and the other one being maternally inherited.},
organization = {This work was partially supported by Grants IT-795-13 and IT-472-07 from the Basque Department of Education (http://www.hezkuntza.ejgv.euskadi.net/r4​3-2591/es). TV is supported by the FPI Program of the University of Basque Country (UPV-EHU, http://www.ehu.es/p200-home/es).},
publisher = {Public Library of Science (PLOS)},
keywords = {Genetic loci},
keywords = {Polymerase chain reaction},
keywords = {Methylation},
keywords = {Comparative genomics},
keywords = {Genome analysis},
keywords = {DNA methylation},
keywords = {Genomic imprinting},
keywords = {Thyroid-stimulating hormone},
title = {Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus},
doi = {10.1371/journal.pone.0117691},
author = {Pérez-Nanclares, Gustavo and Velayos, Teresa and Vela, Amaya and Muñoz Torres, Manuel Eduardo and Castaño, Luis},
}