dc.contributor.author | Doğan, Mustafa | |
dc.contributor.author | Eröz, Recep | |
dc.contributor.author | Öztürk, Emrah | |
dc.date.accessioned | 2021-06-12T23:02:22Z | |
dc.date.available | 2021-06-12T23:02:22Z | |
dc.date.issued | 2021 | en_US |
dc.identifier.citation | Mustafa Doğan, Recep Eröz & Emrah Öztürk (2021) Chorioretinal dystrophy,
hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a
homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene, Ophthalmic Genetics, 42, 3,
276-282, DOI: 10.1080/13816810.2021.1894461 | en_US |
dc.identifier.issn | 1381-6810 | en_US |
dc.identifier.issn | 1744-5094 | en_US |
dc.identifier.uri | https://doi.org/10.1080/13816810.2021.1894461 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12899/239 | |
dc.description.abstract | Purpose: 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.language.iso | en | en_US |
dc.publisher | Taylor & Francis | en_US |
dc.relation.ispartof | Ophthalmic Genetics | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Boucher-Neuhauser syndrome | en_US |
dc.subject | PNPLA6 gene | en_US |
dc.subject | chorioretinal dystrophy | en_US |
dc.title | Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene | en_US |
dc.type | Article | en_US |
dc.authorid | 0000-0003-0464-6565 | en_US |
dc.department | MTÖ Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | en_US |
dc.institutionauthor | Doğan, Mustafa | |
dc.identifier.doi | 10.1080/13816810.2021.1894461 | |
dc.identifier.volume | 42 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.startpage | 276 | en_US |
dc.identifier.endpage | 282 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 33650466 | |
dc.identifier.scopus | 2-s2.0-85106573363 | en_US |
dc.identifier.scopusquality | Q3 | en_US |
dc.identifier.wos | WOS:000624749100001 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |