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dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorThompson, Jennifer A
dc.contributor.authorMcLaren, Terri L
dc.contributor.authorDe Roach, John N
dc.contributor.authorBarnett, Christopher P
dc.contributor.authorLamey, Tina M
dc.contributor.authorCraig, Jamie E
dc.date.accessioned2018-10-24T05:18:53Z
dc.date.available2018-10-24T05:18:53Z
dc.date.issued2018-07-21
dc.identifier.issn1090-0535
dc.identifier.urihttp://hdl.handle.net/2328/38491
dc.identifier.urihttp://www.molvis.org/molvis/v24/478
dc.descriptionPer the publisher's policy, "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."en_US
dc.description.abstractPurpose Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa. Methods DNA from the proband was sequenced using a gene panel for inherited retinal disorders, and a single nucleotide polymorphism (SNP) array was conducted to detect the presence of deletions and uniparental disomy. Results We identified a novel homozygous variant (c.524dupC, p.(Pro176ThrfsTer7)) in TULP1 resulting from maternal uniparental isodisomy of chromosome 6. The patient had clinical features consistent with biallelic pathogenic variants in TULP1, including congenital nystagmus, night blindness, non-recordable electroretinogram, mild myopia, and mild peripheral pigmentary changes in the fundus. Conclusions This is the first report of uniparental disomy 6 and a homozygous variant in TULP1 associated with a rod-cone dystrophy. Molecular diagnosis of inherited retinal dystrophies is essential to inform the mode of transmission and clinical management, and to identify potential candidates for future gene-specific therapies.en_US
dc.language.isoenen_US
dc.publisherMolecular Visionen_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1116360en_US
dc.rights© 2018 Molecular Visionen_US
dc.subjectuniparental disomy 6en_US
dc.subjectInherited retinal dystrophiesen_US
dc.subjectAustralian Inherited Retinal Disease Registryen_US
dc.subjectDNA Banken_US
dc.subjectretinitis pigmentosaen_US
dc.titleMaternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophyen_US
dc.typeArticleen_US
dc.relation.grantnumberNHMRC/1116360en_US
dc.rights.holderMolecular Visionen_US
dc.rights.licenseCC-BY
local.contributor.authorOrcidLookupSouzeau, Emmanuelle: https://orcid.org/0000-0002-2015-6577en_US


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