Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene

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dc.authoridOzturk, Emrah/0000-0002-3590-3213
dc.authoriddogan, mustafa/0000-0003-0464-6565
dc.contributor.authorDogan, Mustafa
dc.contributor.authorEroz, Recep
dc.contributor.authorOzturk, Emrah
dc.date.accessioned2021-12-01T18:50:08Z
dc.date.available2021-12-01T18:50:08Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractPurpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.en_US
dc.identifier.doi10.1080/13816810.2021.1894461
dc.identifier.endpage282en_US
dc.identifier.issn1381-6810
dc.identifier.issn1744-5094
dc.identifier.issue3en_US
dc.identifier.pmid33650466en_US
dc.identifier.scopus2-s2.0-85106573363en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage276en_US
dc.identifier.urihttps://doi.org/10.1080/13816810.2021.1894461
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10831
dc.identifier.volume42en_US
dc.identifier.wosWOS:000624749100001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofOphthalmic Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBoucher-Neuhauser syndromeen_US
dc.subjectPNPLA6 geneen_US
dc.subjectchorioretinal dystrophyen_US
dc.titleChorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 geneen_US
dc.typeArticleen_US

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