PROM1 gene variations in Brazilian patients with macular dystrophy

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dc.citation.issue1
dc.citation.volume38
dc.contributor.authorSalles, Mariana Vallim [UNIFESP]
dc.contributor.authorMotta, Fabiana Louise Teixeira [UNIFESP]
dc.contributor.authorSilva, Elton Dias da [UNIFESP]
dc.contributor.authorTeixeira, Patricia Varela Lima [UNIFESP]
dc.contributor.authorCosta, Karita Antunes [UNIFESP]
dc.contributor.authorSilva, Rafael Filippelli da [UNIFESP]
dc.contributor.authorMartin, Renan Paulo [UNIFESP]
dc.contributor.authorPesquero, João Bosco [UNIFESP]
dc.contributor.authorSallum, Juliana Maria Ferraz [UNIFESP]
dc.coveragePhiladelphia
dc.date.accessioned2020-07-31T12:46:54Z
dc.date.available2020-07-31T12:46:54Z
dc.date.issued2017
dc.description.abstractBackground: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. Purpose: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. Material and methods: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease. Results: Of 25 medical records of patients with Stargardt disease, three records of patients with PROM1 gene sequence variations were selected for the study. The p. Asp776Val and p. Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenicen
dc.description.abstractthey were probably responsible for macular dystrophy in these patients. Case 3 showed a p. Ala643Gly variant in the PROM1 gene and a single variation in the ABCA4 gene, but molecular testing results were inconclusive. Conclusions: In cases of Stargardt disease, where molecular testing results are inconclusive for pathogenic variations in the ABCA4 gene, variations in the PROM1 gene may occur and be considered responsible for the disease in the molecular analysis. This study described three cases in which variations in PROM1 gene may play a role in the pathogenesis of macular dystrophy or be associated with both autosomal recessive and autosomal dominant inheritance.en
dc.description.affiliationFed Univ Sao Paulo UNIFESP, Dept Ophthalmol & Visual Sci, Sao Paulo, Brazil
dc.description.affiliationFed Univ Sao Paulo UNIFESP, Biophys Lab, Sao Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo (UNIFESP), Dept Ophthalmol & Visual Sci, Sao Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo (UNIFESP), Biophys Lab, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent39-42
dc.identifierhttp://dx.doi.org/10.1080/13816810.2016.1275022
dc.identifier.citationOphthalmic Genetics. Philadelphia, v. 38, n. 1, p. 39-42, 2017.
dc.identifier.doi10.1080/13816810.2016.1275022
dc.identifier.issn1381-6810
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/56443
dc.identifier.wosWOS:000393894800007
dc.language.isoeng
dc.publisherTaylor & Francis Inc
dc.relation.ispartofOphthalmic Genetics
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectEye diseasesen
dc.subjectgeneticsen
dc.subjecthereditaryen
dc.subjecthumanen
dc.subjectPROM1 proteinen
dc.subjectretinal dystrophiesen
dc.titlePROM1 gene variations in Brazilian patients with macular dystrophyen
dc.typeinfo:eu-repo/semantics/article
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