A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type la and normal serum calcium and phosphate levels

作者：Antunes Reis Mariana Tenorio; Cattani Andreina; Mendonca Berenice Bilharinho; Silveira Correa Pedro Henrique; Martin Regina Matsunaga^*

来源：Arquivos Brasileiros de Endocrinologia e Metabologia, 2010, 54(8): 728-731.

DOI：10.1590/S0004-27302010000800011

The objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type la (PHP la), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity and low growth velocity. Noteworthy, his mother exhibited typical Albright hereditary osteodystrophy (AHO) phenotype. The clinical diagnosis of PHP la was suspected. The GNAS coding region from mother and son was amplified and directly sequenced. A novel heterozygous missense mutation (c.673T>C) was identified in exon 5 in both patients. In this family, the mother's clinical picture was the clue for the son's diagnosis. Molecular analysis of GNAS confirmed the diagnosis of PHP la in both patients and the child's early diagnosis was possible. Moreover, this novel missense substitution expands the spectrum of GNAS mutations associated with this disorder and allows for genetic counseling of this family. Arq Bras Endocrinol Metab. 2010;54(8):728-31

• 出版日期2010-11