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
  • [31] A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
    Kishi, Haruka
    Jojima, Teruo
    Kogai, Takahiko
    Iijima, Toshie
    Ohira, Eriko
    Tanuma, Dai
    Konno, Sachiyo
    Kato, Kanako
    Kezuka, Atsumi
    Akimoto, Kazumi
    Sakumoto, Junko
    Hishinuma, Akira
    Tomaru, Takuya
    Makita, Noriko
    Usui, Isao
    Aso, Yoshimasa
    CLINICAL CASE REPORTS, 2020, 8 (12): : 2619 - 2624
  • [32] Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
    Anne D. D. Joseph
    Nirmala D. Sirisena
    Thirunavukarasu Kumanan
    Vathualan Sujanitha
    Veronika Strelow
    Raina Yamamoto
    Stefan Wieczorek
    Vajira H. W. Dissanayake
    BMC Endocrine Disorders, 19
  • [33] Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
    Joseph, Anne D. D.
    Sirisena, Nirmala D.
    Kumanan, Thirunavukarasu
    Sujanitha, Vathualan
    Strelow, Veronika
    Yamamoto, Raina
    Wieczorek, Stefan
    Dissanayake, Vajira H. W.
    BMC ENDOCRINE DISORDERS, 2019, 19 (01)
  • [34] Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response
    Kita, Makoto
    Kuwata, Yasuhiro
    Usui, Takeshi
    AURIS NASUS LARYNX, 2019, 46 (05) : 808 - 812
  • [35] A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism
    Saito, Tasuku
    Fukumoto, Seiji
    Ito, Nobuaki
    Suzuki, Hisanori
    Igarashi, Takashi
    Fujita, Toshiro
    JOURNAL OF BONE AND MINERAL METABOLISM, 2009, 27 (03) : 386 - 389
  • [36] A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism
    Tasuku Saito
    Seiji Fukumoto
    Nobuaki Ito
    Hisanori Suzuki
    Takashi Igarashi
    Toshiro Fujita
    Journal of Bone and Mineral Metabolism, 2009, 27 : 386 - 389
  • [37] The hypoparathyroidism-deafness-renal dysplasia syndrome: A case report
    Soledad Gogorza, Maria
    Mena, Elena
    Serra, Guillermo
    Jimenez, Ana
    Noval, Mercedes
    Pereg, Vicente
    ENDOCRINOLOGIA DIABETES Y NUTRICION, 2018, 65 (03): : 187 - +
  • [38] Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population
    Chiu, Wei-Yih
    Chen, Huan-Wen
    Chao, Hwei-Wen
    Yann, Lee-Tzong
    Tsai, Keh-Sung
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (11): : 4587 - 4592
  • [39] HDR Syndrome: A Novel "de novo" Mutation in GATA3 Gene
    Ferraris, Silvio
    Del Monaco, Angelo Giovanni
    Garelli, Emanuela
    Carando, Adriana
    De Vito, Barbara
    Pappi, Patrizia
    Lala, Roberto
    Ponzone, Alberto
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 770 - 775
  • [40] The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
    Doneray, Hakan
    Usui, Takeshi
    Kaya, Avni
    Donmez, Ayse Sena
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2015, 7 (02) : 140 - 143
12345