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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

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dc.contributor.author García-García, Gema
dc.contributor.author Sanchez-Navarro, Iker
dc.contributor.author Aller, Elena
dc.contributor.author Jaijo, Teresa
dc.contributor.author Fuster-García, Carla
dc.contributor.author Rodríguez-Munoz, Ana
dc.contributor.author Vallejo, Elena
dc.contributor.author Tellería, Juan José
dc.contributor.author Vázquez, Selma
dc.contributor.author Beltran, Sergi
dc.contributor.author Derdak, Sophia
dc.contributor.author Zurita, Olga
dc.contributor.author Villaverde-Montero, Cristina
dc.contributor.author Avila-Fernández, Almudena
dc.contributor.author Cortón, Marta
dc.contributor.author Blanco-Kelly, Fiona
dc.contributor.author Hakonarson, Hakon
dc.contributor.author Millán, José M.
dc.contributor.author Ayuso, Carmen
dc.date.accessioned 2020-05-11T10:32:04Z
dc.date.available 2020-05-11T10:32:04Z
dc.date.issued 2020
dc.identifier.citation García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A et al. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. Mol Vis. 2020 Mar 18; 26: 216-225
dc.identifier.issn 1090-0535
dc.identifier.uri http://hdl.handle.net/10230/44485
dc.description.abstract PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole exome sequencing. RESULTS: The study allowed us to detect likely pathogenic variants in PEX6, a gene typically involved in peroxisomal biogenesis disorders (PBDs). Beside deaf-blindness, both families showed additional features: Siblings from Family 1 showed enamel alteration and abnormal peroxisome. In addition, the brother had mild neurodevelopmental delay and nephrolithiasis. The case II:1 from Family 2 showed intellectual disability, enamel alteration, and dysmorphism. CONCLUSIONS: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association.
dc.description.sponsorship This work was financially supported by grants of the Institute of Health Carlos III (ISCIII /FEDER), (Ref.: PI13/00638 PI16/00415, PI16/00539 and CIBER-ER 06/07/0036; Biobank FJD (RD09/0076/00101),); Fundación ONCE (Ref.: 2015/0398) ONCE & Fundaluce, Sponsored Chair IIS-FJD, UAM of Genomics Medicine. CNAG's 2013 call “300 exomes to elucidate rare diseases.” Institutional Development Fund at CAG from The Children’s Hospital of Philadelphia. CFG, ISN and MCP are recipients of fellowships from the ISCIII (Ref.: IFI14/00021; Sara Borrell CD13–00085 and Miguel Servet CPII17_00006 respectively)
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Molecular Vision
dc.rights © 2020 Molecular Vision. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed
dc.rights.uri http://creativecommons.org/licenses/by/4.0
dc.subject.other Retinitis pigmentària
dc.subject.other Discapacitats auditius
dc.subject.other Proteïnes
dc.subject.other Genètica
dc.title Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
dc.type info:eu-repo/semantics/article
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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