Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Tokyo, Japan. In Endocr J, 2014
To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally expressed GNAS coding regions and in two patients with sporadic form of PHP-Ib accompanied by broad methylation defects of maternally derived GNAS differentially methylated regions (DMRs), it has not been identified in a patient with an autosomal dominant form of PHP-Ib (AD-PHP-Ib) accompanied by an STX16 microdeletion and an isolated loss of methylation (LOM) at exon A/B-DMR.
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.
Le Kremlin-Bicêtre, France. In Horm Res Paediatr, 2012
Likewise, alterations in the methylation at promoters of GNAS transcripts, associated or not with deletions of imprinting control regions in the nearby STX16 gene or within GNAS, prompt resistance to parathormone when affecting the maternal allele.
The GNAS locus and pseudohypoparathyroidism.
Boston, United States. In Adv Exp Med Biol, 2007
A unique 3-kb microdeletion that disrupts the neighboring STX16 1ocus has been identified in this disorder and appears to be the cause of the loss of imprinting.