title: Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.
abstract: Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by hormone resistance to receptors that stimulate adenylate cyclase. PHP-Ia patients show specific Gs-alpha protein deficiency, PTH/TSH/gonadotropin resistance, and a phenotype characterized by Albright hereditary osteodystrophy (AHO). Many heterozygous mutations in the GNAS gene encoding the Gs protein have been identified in PHP-Ia. We describe two boys with hypocalcemia and elevated serum levels of PTH in a Chinese family. The 13 exons of the GNAS gene were amplified using 15 pairs of GNAS-specific primers and analyzed by direct sequencing. We found a novel frame shift mutation in exon 11 of the GNAS gene identified in both of the two boys and their mother. This report provides another example of a Gs-alpha mutation leading to PHP.
authors.affiliation: Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai, 200025, China.
authors.forename: Li-Hao
authors.initials: LH
authors.lastname: Sun
authors.forename: Bin
authors.initials: B
authors.lastname: Cui
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Zhao
authors.forename: Bei
authors.initials: B
authors.lastname: Tao
authors.forename: Wei-Qing
authors.initials: WQ
authors.lastname: Wang
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Li
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001479:Basal Ganglia / Q000000981:diagnostic imaging; D001483:Base Sequence; D002675:Child, Preschool; D002864:Chromogranins; D005192:Family Health; D005359:Fibrous Dysplasia, Polyostotic / Q000000981:diagnostic imaging / Q000235:genetics*; D016368:Frameshift Mutation; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017434:Protein Structure, Tertiary; D011547:Pseudohypoparathyroidism / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs