Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.

ABSTRACT:

Background

Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the maternal allele of the GNAS gene, which encodes the stimulatory G-protein alpha subunit (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Herein, we report a case of of PHP1A with atypical clinical manifestations (oligomenorrhea, subclinical hypothyroidism, and normocalcemia) and explore the underlying genetic cause in this patient.

Methods

Blood samples were collected from the patient, her family members, and 100 healthy controls. The 13 exons and flanking splice

SUBMITTER: Long XD 

PROVIDER: S-EPMC6065144 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature