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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...

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Autores principales: Wang, Yan-gong, Sun, Shu-ping, Qiu, Yi-ling, Xing, Qing-he, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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.
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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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