PMID- 37881737
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231031
IS  - 0971-4065 (Print)
IS  - 1998-3662 (Electronic)
IS  - 0971-4065 (Linking)
VI  - 33
IP  - 5
DP  - 2023 Sep-Oct
TI  - A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and 
      Renal Dysplasia Syndrome.
PG  - 377-380
LID - 10.4103/ijn.ijn_250_21 [doi]
AB  - 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.
CI  - Copyright: (c) 2023 Indian Journal of Nephrology.
FAU - Prabhu, Pooja Prakash
AU  - Prabhu PP
AD  - Department of Nephrology, Manipal Hospitals, Bangalore, India.
FAU - Ballal, Sudarshan
AU  - Ballal S
AD  - Department of Nephrology, Manipal Hospitals, Bangalore, India.
FAU - Augustine, Rohan
AU  - Augustine R
AD  - Department of Nephrology, Manipal Hospitals, Bangalore, India.
FAU - Shetty, Mitesh
AU  - Shetty M
AD  - Department of Medical Genetics, Manipal Hospitals, Bengaluru, Karnataka, India.
LA  - eng
PT  - Case Reports
DEP - 20230221
PL  - India
TA  - Indian J Nephrol
JT  - Indian journal of nephrology
JID - 8914356
PMC - PMC10593303
OTO - NOTNLM
OT  - Adynamic Bone Disease
OT  - GATA3 gene
OT  - HDR syndrome
OT  - deafness and kidney
COIS- There are no conflicts of interest.
EDAT- 2023/10/26 06:42
MHDA- 2023/10/26 06:43
PMCR- 2023/09/01
CRDT- 2023/10/26 04:18
PHST- 2021/06/13 00:00 [received]
PHST- 2022/01/19 00:00 [accepted]
PHST- 2023/10/26 06:43 [medline]
PHST- 2023/10/26 06:42 [pubmed]
PHST- 2023/10/26 04:18 [entrez]
PHST- 2023/09/01 00:00 [pmc-release]
AID - IJN-33-377 [pii]
AID - 10.4103/ijn.ijn_250_21 [doi]
PST - ppublish
SO  - Indian J Nephrol. 2023 Sep-Oct;33(5):377-380. doi: 10.4103/ijn.ijn_250_21. Epub 
      2023 Feb 21.