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A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila “eye absent” gene on chromosome 8q13.3, is recognized as one of t...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081847/ https://www.ncbi.nlm.nih.gov/pubmed/30086703 http://dx.doi.org/10.1186/s12881-018-0653-2 |
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author | Wang, Yan-gong Sun, Shu-ping Qiu, Yi-ling Xing, Qing-he Lu, Wei |
author_facet | Wang, Yan-gong Sun, Shu-ping Qiu, Yi-ling Xing, Qing-he Lu, Wei |
author_sort | Wang, Yan-gong |
collection | PubMed |
description | BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila “eye absent” gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae. The girl’s family members, except two who were deceased, agreed to undergo clinical examination. We collected blood samples from 10 family members, including six who were affected by the syndrome. Genomic DNA was extracted and subjected to Sanger sequencing. A minigene assay was performed to confirm whether splicing signals were altered. In addition, we performed western blotting to determine alterations in protein levels of the wild-type and mutant gene. RESULTS: Clinical tests showed that some of the family members met the criteria for BOR syndrome. The affected members harbored a novel heterozygous nonsense variation in exon 11 of EYA1, whereas no unaffected member carried the mutation at this position. Functional experiments did not detect abnormal splicing at the RNA level; however, western blotting showed that the mutated protein was truncated. CONCLUSIONS: This study reports a novel mutation associated with BOR syndrome in a Chinese family. We highlight the usefulness of genetic testing in the diagnosis of BOR syndrome. Thus, we believe that this report would benefit clinicians in this field. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12881-018-0653-2) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6081847 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-60818472018-08-10 A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome Wang, Yan-gong Sun, Shu-ping Qiu, Yi-ling Xing, Qing-he Lu, Wei BMC Med Genet Research Article BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila “eye absent” gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae. The girl’s family members, except two who were deceased, agreed to undergo clinical examination. We collected blood samples from 10 family members, including six who were affected by the syndrome. Genomic DNA was extracted and subjected to Sanger sequencing. A minigene assay was performed to confirm whether splicing signals were altered. In addition, we performed western blotting to determine alterations in protein levels of the wild-type and mutant gene. RESULTS: Clinical tests showed that some of the family members met the criteria for BOR syndrome. The affected members harbored a novel heterozygous nonsense variation in exon 11 of EYA1, whereas no unaffected member carried the mutation at this position. Functional experiments did not detect abnormal splicing at the RNA level; however, western blotting showed that the mutated protein was truncated. CONCLUSIONS: This study reports a novel mutation associated with BOR syndrome in a Chinese family. We highlight the usefulness of genetic testing in the diagnosis of BOR syndrome. Thus, we believe that this report would benefit clinicians in this field. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12881-018-0653-2) contains supplementary material, which is available to authorized users. BioMed Central 2018-08-07 /pmc/articles/PMC6081847/ /pubmed/30086703 http://dx.doi.org/10.1186/s12881-018-0653-2 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Wang, Yan-gong Sun, Shu-ping Qiu, Yi-ling Xing, Qing-he Lu, Wei A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title | A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title_full | A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title_fullStr | A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title_full_unstemmed | A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title_short | A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome |
title_sort | novel mutation in eya1 in a chinese family with branchio-oto-renal syndrome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081847/ https://www.ncbi.nlm.nih.gov/pubmed/30086703 http://dx.doi.org/10.1186/s12881-018-0653-2 |
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