[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism]

A de Arriba Muñoz; J I Labarta Aizpún; E Mayayo Dehesa; M T Calvo; G Pérez de Nanclares; A Ferrández-Longás

doi:10.1016/j.anpedi.2010.09.024

[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism]

An Pediatr (Barc). 2011 Feb;74(2):116-21. doi: 10.1016/j.anpedi.2010.09.024. Epub 2010 Dec 18.

[Article in Spanish]

Authors

A de Arriba Muñoz¹, J I Labarta Aizpún, E Mayayo Dehesa, M T Calvo, G Pérez de Nanclares, A Ferrández-Longás

Affiliation

¹ Unidad de Endocrinología Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain.

PMID: 21169072
DOI: 10.1016/j.anpedi.2010.09.024

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.

Publication types

Case Reports

MeSH terms

Adult
Chromogranins
Female
GTP-Binding Protein alpha Subunits, Gs / genetics*
Humans
Infant, Newborn
Mutation*
Pseudohypoparathyroidism / genetics*

Substances

Chromogranins
GNAS protein, human
GTP-Binding Protein alpha Subunits, Gs