Year: 2015
Type: conference-abstract
Abstract: GeneticsHeterozygous for an insertion of 8 nucleotides at cDNA position 388 (c.388_389insGGTTCATC) in the GNAS1 gene.• Pseudohypoparathyroidism type 1a(PHP-1a) is a rare disorder caused by a maternally inherited mutation in the GNAS gene localized on chromosome 20 encoding for GS-α protein.• PHP-1a is usually diagnosed in childhood due to a distinctive phenotype that includes: Short stature Round facies Brachymetacarpia Ectopic ossifications Multi-hormone resistance• These features are associated with resistance to parathyroid hormone(PTH).• A more recently described feature of PHP-1a is early-onset obesity.• The hypothalmic GS protein coupled melanocotin-4 receptor (MC4R) may mediate the central effects of leptin on inhibition of satiety.
Source: Endocrine Abstracts
Language: English
Subfield: Endocrine and Autonomic Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2525401474