TY  - JOUR 
AU  - Pérez-Nanclares, Gustavo
AU  - Velayos, Teresa
AU  - Vela, Amaya
AU  - Muñoz Torres, Manuel Eduardo
AU  - Castaño, Luis
PY  - 2015
SN  - 1932-6203
UR  - http://hdl.handle.net/10481/35155
AB  - 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...
AB  - 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.
AB  - 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...
AB  - 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...
AB  - 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.
LA  - eng
PB  - Public Library of Science (PLOS)
KW  - Genetic loci
KW  - Polymerase chain reaction
KW  - Methylation
KW  - Comparative genomics
KW  - Genome analysis
KW  - DNA methylation
KW  - Genomic imprinting
KW  - Thyroid-stimulating hormone
TI  - Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
DO  - 10.1371/journal.pone.0117691
ER  -