title: A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.
abstract: Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different features of Albright's hereditary osteodystrophy as well as multi-hormone resistance. We describe a Chinese woman and her son, who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation [NM_000516.4(GNAS):c682C>T (p.Arg228Cys)] in the GNAS gene.
authors.affiliation: Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: Vicki H K
authors.initials: VH
authors.lastname: Tam
authors.affiliation: Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
authors.forename: Sammy P L
authors.initials: SP
authors.lastname: Chen
authors.affiliation: Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
authors.forename: Chole M
authors.initials: CM
authors.lastname: Mak
authors.affiliation: Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: L M
authors.initials: LM
authors.lastname: Fung
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: C Y
authors.initials: CY
authors.lastname: Lee
authors.affiliation: Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
authors.forename: Albert Y W
authors.initials: AY
authors.lastname: Chan
mesh_terms: D000293:Adolescent; D000328:Adult; D002864:Chromogranins; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000235:genetics*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: Asian continental ancestry group; Hypocalcemia; Pseudohypoparathyroidism