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
相关论文
共 50 条
  • [21] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
    Okawa, Tetsuji
    Yoshida, Masanori
    Usui, Takeshi
    Kudou, Takahiro
    Iwasaki, Yasumasa
    Fukuoka, Kazuki
    Takahashi, Norio
    Uehara, Yuka
    Oiso, Yutaka
    BMC ENDOCRINE DISORDERS, 2015, 15
  • [22] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
    Tetsuji Okawa
    Masanori Yoshida
    Takeshi Usui
    Takahiro Kudou
    Yasumasa Iwasaki
    Kazuki Fukuoka
    Norio Takahashi
    Yuka Uehara
    Yutaka Oiso
    BMC Endocrine Disorders, 15
  • [23] A NOVEL GATA3 NONSENSE MUTATION IN A NEWLY DIAGNOSED ADULT PATIENT OF HYPOTHYROIDISM, DEAFNESS, AND RENAL DYSPLASIA (HDR) SYNDROME
    Nanba, Kazutaka
    Usui, Takeshi
    Nakamura, Michikazu
    Toyota, Yuko
    Hirota, Keisho
    Tamanaha, Tamiko
    Kawashima, Sachiko-Tsukamoto
    Nakao, Kanako
    Yuno, Akiko
    Tagami, Tetsuya
    Naruse, Mitsuhide
    Shimatsu, Akira
    ENDOCRINE PRACTICE, 2013, 19 (01) : E17 - E20
  • [24] A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
    Chu Xue-Ying
    Li Yue-Peng
    Nie Min
    Wang Ou
    Jiang Yan
    Li Mei
    Xia Wei-Bo
    Xing Xiao-Ping
    中华医学杂志英文版, 2017, 130 (11) : 1378 - 1380
  • [25] Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene
    Chen, Haibin
    Zhang, Yudi
    Yang, Xueyao
    Li, Yongzhen
    FRONTIERS IN ENDOCRINOLOGY, 2025, 16
  • [26] A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
    Chu, Xue-Ying
    Li, Yue-Peng
    Nie, Min
    Wang, Ou
    Jiang, Yan
    Li, Mei
    Xia, Wei-Bo
    Xing, Xiao-Ping
    CHINESE MEDICAL JOURNAL, 2017, 130 (11) : 1378 - 1380
  • [27] A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
    Arrojo Martins, Fabio Tadeu
    Ramos, Berenice Dias
    Sartorato, Edi Lacia
    GENETICS AND MOLECULAR BIOLOGY, 2018, 41 (04) : 794 - 798
  • [28] Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
    Vroegindewey, Luke
    Kim, John
    Joseph, Dennis J.
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2024, 2024 (04):
  • [29] Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
    Ali, Asif
    Christie, Paul T.
    Grigorieva, Irina V.
    Harding, Brian
    Van Esch, Hilde
    Ahmed, S. Faisal
    Bitner-Glindzicz, Maria
    Blind, Eberhard
    Bloch, Catherine
    Christin, Patricia
    Clayton, Peter
    Gecz, Jozef
    Gilbert-Dussardier, Brigitte
    Guillen-Navarro, Encarna
    Hackett, Anna
    Halac, Isil
    Hendy, Geoffrey N.
    Lalloo, Fiona
    Mache, Christoph J.
    Mughal, Zulf
    Ong, Albert C. M.
    Rinat, Choni
    Shaw, Nicholas
    Smithson, Sarah F.
    Tolmie, John
    Weill, Jacques
    Nesbit, M. Andrew
    Thakker, Rajesh V.
    HUMAN MOLECULAR GENETICS, 2007, 16 (03) : 265 - 275
  • [30] A Novel Mutation in GATA3 Gene in HDR Syndrome
    Kim, Dooman
    Yang, Seoung
    Park, Jun
    Son, Ho Young
    ENDOCRINE REVIEWS, 2014, 35 (03)
12345