Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafne...

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Autores principales: Shim, Yong Suk, Choi, Woohyeok, Hwang, Il Tae, Yang, Seung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397275/
https://www.ncbi.nlm.nih.gov/pubmed/25883929
http://dx.doi.org/10.6065/apem.2015.20.1.59
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author Shim, Yong Suk
Choi, Woohyeok
Hwang, Il Tae
Yang, Seung
author_facet Shim, Yong Suk
Choi, Woohyeok
Hwang, Il Tae
Yang, Seung
author_sort Shim, Yong Suk
collection PubMed
description Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
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spelling pubmed-43972752015-04-16 Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation Shim, Yong Suk Choi, Woohyeok Hwang, Il Tae Yang, Seung Ann Pediatr Endocrinol Metab Case Report Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3. The Korean Society of Pediatric Endocrinology 2015-03 2015-03-31 /pmc/articles/PMC4397275/ /pubmed/25883929 http://dx.doi.org/10.6065/apem.2015.20.1.59 Text en © 2015 Annals of Pediatric Endocrinology & Metabolism http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Shim, Yong Suk
Choi, Woohyeok
Hwang, Il Tae
Yang, Seung
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title_full Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title_fullStr Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title_full_unstemmed Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title_short Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
title_sort hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a gata3 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397275/
https://www.ncbi.nlm.nih.gov/pubmed/25883929
http://dx.doi.org/10.6065/apem.2015.20.1.59
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