Genetic analysis of pseudohypoparathyroidism type Ⅰ a : report of a pedigree
10.3760/cma.j.issn.1000-6699.2012.08.011
- VernacularTitle:假性甲状旁腺功能减退症Ⅰ a型遗传学研究——附一家系报告
- Author:
Ruizhi ZHENG
;
Zhigang ZHAO
;
Yanfang WANG
;
Huijuan YUAN
;
Suijun WANG
;
Yong SU
;
Huifeng ZHANG
;
Ziying HU
;
Yuehua MA
;
Rui TIAN
;
Qian YUAN
;
Xiaoyang SHI
- Publication Type:Journal Article
- Keywords:
Pseudohypoparathyroidism;
Albright hereditary osteodystrophy
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(8):647-649
- CountryChina
- Language:Chinese
-
Abstract:
The clinical and genetic data were retrospectively analyzed in a pedigree with pseudohypoparathyroidism type Ⅰ a.Clinically typical Albright hereditary osteodystrophy (AHO),hypocalcemia,hyperphosphatemia,and PTH- and TSH-resistance were manifested in the proband,but not in his brother and parents.The proband's symptom of epilepsy was alleviated by treatment with calcium and vitamin D,which was of no avail in regard to AHO.After GNAS1 genes were sequenced and compared with the GenBank data among the family members,a deletion of c.1107_1108 ( p.Glu370ArgfsX11 ) in exon l3 of GNAS1 gene leading to a frameshift mutation was found in the proband and his mother.It suggested that the GNAS1 gene mutation might be related to the pathogenesis of the disease.
