Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome

被引：9

作者：

Chen, Liu ^{[1
]}

Chen, Bing ^{[1
]}

Leng, Wuilin ^{[1
]}

Lui, Xiaotian ^{[1
]}

Wu, Qinan ^{[1
]}

Ouyang, Xinshou ^{[2
]}

Liang, Ziwen ^{[1
]}

机构：

[1] Third Mil Med Univ, Affiliated Hosp 1, Dept Endocrinol, Chongqing, Peoples R China

[2] Yale Univ, Sch Med, Dept Internal Med, Sect Digest Dis, New Haven, CT 06510 USA

来源：

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2015年 / 43卷 / 05期

基金：

中国国家自然科学基金;

关键词：

HDR syndrome; GATA3; phenotypic spectrum; mutation analysis; RENAL DYSPLASIA HDR; SENSORINEURAL DEAFNESS; HYPOPARATHYROIDISM; GATA3; PHENOTYPES;

D O I：

10.1177/0300060515591065

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

We describe the case of a 21-year-old male with hypocalcaemia, hyperphosphataemia, recurrent limb twitch, deafness, proteinuria, increased serum creatinine and urea nitrogen levels, and shrinkage of both kidneys. Brain computed tomography showed intracranial calcifications. The patient was diagnosed with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. DNA sequence analysis of the GATA3 gene showed a novel de novo mutation, c. 529dupC (p. Arg177profs*126), in exon 2, resulting in a frameshift mutation with a premature stop codon after a new 126 amino acid sequence. We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3.

引用

页码：718 / 724

页数：7

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