Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism
10.3760/cma.j.issn.1000-6699.2019.12.002
- VernacularTitle: 1b型假性甲状旁腺功能减退症临床及基因甲基化分析
- Author:
Yujin MA
1
;
Peng LIU
;
Yuan YUAN
;
Haibo LU
;
Wenbo ZHANG
;
Liujun FU
;
Liping LI
;
Jie LIU
;
Yingyu ZHANG
;
Huifang PENG
;
Hongwei JIANG
Author Information
1. Luoyang City Clinical Research for Endocrinology and Metabolism, Department of Endocrinology and Metabolism, the First Affiliated Hospital of Henan University of Science and Technology, Luoyang 471003, China
- Publication Type:Journal Article
- Keywords:
Pseudohypoparathyroidism, type 1b;
GNAS;
Methylation
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(12):1001-1005
- CountryChina
- Language:Chinese
-
Abstract:
Objective:This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease.
Methods:Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed.
Results:There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative.
Conclusion:MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
