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A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral se...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415598/ https://www.ncbi.nlm.nih.gov/pubmed/30534854 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0194 |
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author | Martins, Fábio Tadeu Arrojo Ramos, Berenice Dias Sartorato, Edi Lúcia |
author_facet | Martins, Fábio Tadeu Arrojo Ramos, Berenice Dias Sartorato, Edi Lúcia |
author_sort | Martins, Fábio Tadeu Arrojo |
collection | PubMed |
description | HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that she has a de novo mutation. Furthermore, HDR syndrome was confirmed with new clinical evaluations showing right kidney agenesis in the proband. This is the first study reporting only deafness and renal abnormalities as symptoms of the p.Arg367* mutation in the GATA3 gene, and also the sixth HDR syndrome case in the world, and the first on the American continent. Together with other reported cases, this study highlights the variability of HDR syndrome symptoms in individuals with the p.Arg367* mutation, emphasizing the importance of molecular analyses for correct diagnosis. |
format | Online Article Text |
id | pubmed-6415598 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-64155982019-03-21 A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene Martins, Fábio Tadeu Arrojo Ramos, Berenice Dias Sartorato, Edi Lúcia Genet Mol Biol Human and Medical Genetics HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that she has a de novo mutation. Furthermore, HDR syndrome was confirmed with new clinical evaluations showing right kidney agenesis in the proband. This is the first study reporting only deafness and renal abnormalities as symptoms of the p.Arg367* mutation in the GATA3 gene, and also the sixth HDR syndrome case in the world, and the first on the American continent. Together with other reported cases, this study highlights the variability of HDR syndrome symptoms in individuals with the p.Arg367* mutation, emphasizing the importance of molecular analyses for correct diagnosis. Sociedade Brasileira de Genética 2018-11-14 2018 /pmc/articles/PMC6415598/ /pubmed/30534854 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0194 Text en Copyright © 2018, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited. |
spellingShingle | Human and Medical Genetics Martins, Fábio Tadeu Arrojo Ramos, Berenice Dias Sartorato, Edi Lúcia A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title_full | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title_fullStr | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title_full_unstemmed | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title_short | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene |
title_sort | rare case of deafness and renal abnormalities in hdr syndrome caused by a de novo mutation in the gata3 gene |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415598/ https://www.ncbi.nlm.nih.gov/pubmed/30534854 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0194 |
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