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
Descripción
Sumario: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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