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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.
Afiliación
  • Wang YG; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Mingdao Building, Dong-an Road 131, Shanghai, 200032, China.
  • Sun SP; Department of Otorhinolaryngology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jian-she Road, Zhengzhou, 450052, China.
  • Qiu YL; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Wan-yuan Road 399, Shanghai, 201102, China.
  • Xing QH; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Mingdao Building, Dong-an Road 131, Shanghai, 200032, China. xingqinghe@hotmail.com.
  • Lu W; Department of Otorhinolaryngology, The First Affiliated Hospital of Zhengzhou University, No. 1 Jian-she Road, Zhengzhou, 450052, China. luweimd@hotmail.com.
BMC Med Genet ; 19(1): 139, 2018 08 07.
Article en En | MEDLINE | ID: mdl-30086703
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteínas Tirosina Fosfatasas / Codón sin Sentido / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteínas Tirosina Fosfatasas / Codón sin Sentido / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China