中华骨质疏松和骨矿盐疾病杂志2025，Vol.18Issue(4)：453-458,6.DOI:10.3969/j.issn.1674-2591.2025.04.008
GNAS基因变异导致的假性甲状旁腺功能减退症ⅠA型伴亚临床甲状腺功能减退症一例报告
Pseudohypoparathyroidism type ⅠA with subclinical hypothyroidism caused by GNAS gene variation:a case report
陈畹琪 1高爱民 1杨莹1
作者信息
- 1. 550003 贵阳,贵阳市妇幼保健院 贵阳市儿童医院 儿童内分泌遗传代谢科
- 折叠
摘要
Abstract
This article reported the clinical and genetic analysis of a case of pseudohypoparathyroidism ⅠA(PHPⅠA)with subclinical hypothyroidism patient and its family members.The proband was screened for pathogenic mu-tations by whole exon sequencing(WES)technology,and the pathogenic sites of candidate genes were determined by combining phenotypic data,which were verified by Sanger sequencing.The proband,his mother and his brother carried a heterozygous nonsense variant of the GNAS gene c.22 24delinsTAA,which expanding the map of GNAS gene variants and contributing to the diagnosis and treatment.关键词
假性甲状旁腺功能减退症ⅠA型/亚临床甲状腺功能减退/GNAS基因/全外显子测序Key words
pseudohypoparathyroidism ⅠA/subclinical hypothyroidism/GNAS gene/whole exon sequencing分类
医药卫生引用本文复制引用
陈畹琪,高爱民,杨莹..GNAS基因变异导致的假性甲状旁腺功能减退症ⅠA型伴亚临床甲状腺功能减退症一例报告[J].中华骨质疏松和骨矿盐疾病杂志,2025,18(4):453-458,6.
