Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.

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 sequ

SUBMITTER: Perez-Nanclares G 

PROVIDER: S-EPMC4339194 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature