A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

被引：3
|
作者：
Prabhu, Pooja Prakash [1 ,3 ]
Ballal, Sudarshan [1 ]
Augustine, Rohan [1 ]
Shetty, Mitesh [2 ]
机构：
[1] Manipal Hosp, Dept Nephrol, Bangalore, India
[2] Manipal Hosp, Dept Med Genet, Bengaluru, Karnataka, India
[3] 101 Nandana, Bengaluru 560096, Karnataka, India
来源：
INDIAN JOURNAL OF NEPHROLOGY | 2023年 / 33卷 / 05期
关键词：
Adynamic Bone Disease; deafness and kidney; GATA3; gene; HDR syndrome; SENSORINEURAL DEAFNESS; HDR;
D O I：
10.4103/ijn.ijn_250_21
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone levels and was started on teriparatide injections and calcium supplements. Despite all these measures, he had persistent hypocalcemia and low parathyroid hormone levels. Hence, Hypoparathyroidism, Deafness, and Renal dysplasia (HDR) syndrome was suspected, and the patient was evaluated for the same. Genetic analysis revealed the presence of a de novo and a novel frameshift mutation in GATA-binding protein 3 (GATA3) gene on chromosome 10p. To the best of our knowledge, this is the first case report of HDR syndrome being diagnosed by genetic analysis in India.
引用
收藏
页码：377 / 380
页数：4
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