title: [Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].
abstract: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected.
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain.
authors.forename: A
authors.initials: A
authors.lastname: de Arriba Muñoz
authors.forename: J I
authors.initials: JI
authors.lastname: Labarta Aizpún
authors.forename: E Mayayo
authors.initials: EM
authors.lastname: Dehesa
authors.forename: M T
authors.initials: MT
authors.lastname: Calvo
authors.forename: G
authors.initials: G
authors.lastname: Pérez de Nanclares
authors.forename: A
authors.initials: A
authors.lastname: Ferrández-Longás
mesh_terms: D000328:Adult; D002864:Chromogranins; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000235:genetics*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs