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

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...

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Detalles Bibliográficos
Autores principales: Prabhu, Pooja Prakash, Ballal, Sudarshan, Augustine, Rohan, Shetty, Mitesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593303/
https://www.ncbi.nlm.nih.gov/pubmed/37881737
http://dx.doi.org/10.4103/ijn.ijn_250_21
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author Prabhu, Pooja Prakash
Ballal, Sudarshan
Augustine, Rohan
Shetty, Mitesh
author_facet Prabhu, Pooja Prakash
Ballal, Sudarshan
Augustine, Rohan
Shetty, Mitesh
author_sort Prabhu, Pooja Prakash
collection PubMed
description 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.
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spelling pubmed-105933032023-10-25 A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome Prabhu, Pooja Prakash Ballal, Sudarshan Augustine, Rohan Shetty, Mitesh Indian J Nephrol Case Report 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. Wolters Kluwer - Medknow 2023 2023-02-21 /pmc/articles/PMC10593303/ /pubmed/37881737 http://dx.doi.org/10.4103/ijn.ijn_250_21 Text en Copyright: © 2023 Indian Journal of Nephrology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Prabhu, Pooja Prakash
Ballal, Sudarshan
Augustine, Rohan
Shetty, Mitesh
A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title_full A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title_fullStr A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title_full_unstemmed A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title_short A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
title_sort novel mutation in gata3 gene in a case of hypoparathyroidism, deafness, and renal dysplasia syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593303/
https://www.ncbi.nlm.nih.gov/pubmed/37881737
http://dx.doi.org/10.4103/ijn.ijn_250_21
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