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dc.contributor.authorYesil, Gozde
dc.contributor.authorUyguner, Oya
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorKARAMAN, Volkan
dc.contributor.authorKARACA, Meryem
dc.contributor.authorASLANGER, Ayça Dilruba
dc.contributor.authorTOKSOY, Güven
dc.contributor.authorGÜLEÇ, Çağrı
dc.contributor.authorKALAYCI, Tuğba
dc.contributor.authorSengenc, Esma
dc.contributor.authorAvci, Sahin
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorIscan, Akin
dc.date.accessioned2023-10-10T12:21:31Z
dc.date.available2023-10-10T12:21:31Z
dc.date.issued2023
dc.identifier.citationASLANGER A. D., GÜLEÇ Ç., KALAYCI T., Sengenc E., Avci S., Altunoglu U., KARAMAN V., TOKSOY G., KARACA M., Iscan A., et al., "Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye", MEDICAL JOURNAL OF BAKIRKOY, cilt.19, sa.2, ss.222-228, 2023
dc.identifier.issn1305-9319
dc.identifier.otherav_1eae8ed7-5093-4e09-b482-85fdf8a5d21a
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/190049
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/1eae8ed7-5093-4e09-b482-85fdf8a5d21a/file
dc.identifier.urihttps://doi.org/10.4274/bmj.galenos.2023.2022.9-10
dc.description.abstractObjective: Tay-Sachs disease is a fatal inherited lysosomal storage disease that mostly has an early infantile onset. We presented a case series of Tay-Sachs disease, describe the clinical and molecular findings, and compare the genetic spectrum with previously reported mutations from Turkiye.Methods: Patients with Tay-Sachs disease who were referred to the Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics between January 2016 and December 2021 were included in this study. The diagnosis was confirmed by determining the level of serum 0-hexosaminidase activity and the detection of a biallelic related variant upon Sanger sequencing of the HEXA gene. The clinical and molecular findings of nine cases were re-evaluated. Results: Three disease-causing variants in the HEXA gene including c.78G>A (p.(Trp26Ter)) in three cases, c.1177C>T (p.(Arg393Ter)) in two cases, and c.1100_1111del (p.(Gly367_Tyr370del)) in three cases were determined. Moreover, a novel c.786C>G (p.(His262Gln)) variant was detected in one case. All of the stated variants were identified in the homozygous state.Conclusion: Our study both reassessed and expanded the known mutation spectrum of Tay-Sachs disease in Turkiye. Given the expanding horizon of newborn screening and population carrier testing, understanding the spectrum of population-specific disease-causing variants will facilitate early diagnosis of patients and carriers.
dc.language.isoeng
dc.subjectGenel Tıp
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectGenel Sağlık Meslekleri
dc.subjectPatofizyoloji
dc.subjectTemel Bilgi ve Beceriler
dc.subjectDeğerlendirme ve Teşhis
dc.subjectDahiliye
dc.subjectAile Sağlığı
dc.subjectTıp (çeşitli)
dc.titleClinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye
dc.typeMakale
dc.relation.journalMEDICAL JOURNAL OF BAKIRKOY
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume19
dc.identifier.issue2
dc.identifier.startpage222
dc.identifier.endpage228
dc.contributor.firstauthorID4409956


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