一名中国女性及其患有低钙血症的儿子发生1a型假性甲状旁腺功能减退症的新型突变。

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.

作者信息

Tam Vicki H K, Chen Sammy P L, Mak Chole M, Fung L M, Lee C Y, Chan Albert Y W

机构信息

Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.

Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.

出版信息

Hong Kong Med J. 2014 Jun;20(3):258-60. doi: 10.12809/hkmj134025.

DOI:10.12809/hkmj134025

PMID:24914079

Abstract

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different features of Albright's hereditary osteodystrophy as well as multi-hormone resistance. We describe a Chinese woman and her son, who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation [NM_000516.4(GNAS):c682C>T (p.Arg228Cys)] in the GNAS gene.

摘要

假性甲状旁腺功能减退症是一种罕见的遗传性疾病，其特征是由于模拟多肽1（GNAS）基因活性的鸟嘌呤核苷酸结合蛋白α缺陷，导致终末器官对甲状旁腺激素产生抵抗。1a型假性甲状旁腺功能减退症患者表现出不同特征的奥尔布赖特遗传性骨营养不良以及多激素抵抗。我们描述了一名中国女性及其儿子，他们表现出假性甲状旁腺功能减退症的不同症状，临床表现为不同程度的奥尔布赖特遗传性骨营养不良。基因研究检测到GNAS基因存在一个突变[NM_000516.4(GNAS):c682C>T (p.Arg228Cys)]。