title: Identification of a novel mutation in a pseudohypoparathyroidism family.
abstract: Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa). A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), and gonadotropins) presented at our center. The sequence of the GNAS gene from the patient and her families revealed a novel missense mutation (Y318H) in the proband and her mother. An in vitro Gsa functional study showed that Gsa function was significantly impaired. These results stress the importance of GNAS gene investigation.
authors.affiliation: Gout Laboratory, The Affiliated Hospital of Qingdao University Medical College, 16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Zhi-Min
authors.initials: ZM
authors.lastname: Miao
authors.forename: Can
authors.initials: C
authors.lastname: Wang
authors.forename: Bin-Bin
authors.initials: BB
authors.lastname: Wang
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Meng
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Su
authors.forename: Zhi
authors.initials: Z
authors.lastname: Cheng
authors.forename: Qiao-Lian
authors.initials: QL
authors.lastname: Wen
authors.forename: Lin
authors.initials: L
authors.lastname: Han
authors.forename: Qing
authors.initials: Q
authors.lastname: Yu
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Chang-Gui
authors.initials: CG
authors.lastname: Li