Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families

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dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0003-2438-0602en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0001-7004-6803en_US
dc.authorid0000-0001-7542-7787en_US
dc.contributor.authorÜnal, Edip
dc.contributor.authorKarakaya, Amine Aktar
dc.contributor.authorBeştaş, Aslı
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorTaş, Funda Feryal
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-12-08T08:20:34Z
dc.date.available2021-12-08T08:20:34Z
dc.date.issued2021en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractPurpose: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. Methods: A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon-intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. Results: Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). Conclusion: We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.en_US
dc.identifier.citationÜnal, E., Karakaya, A. A., Beştaş, A., Yıldırım, R., Taş, F. F., Onay, H. ve diğerleri. (2021). Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families. Journal of Endocrinological Investigation, 44(6), 1301-1307.en_US
dc.identifier.doi10.1007/s40618-020-01437-9
dc.identifier.endpage1307en_US
dc.identifier.issn1720-8386
dc.identifier.issue6en_US
dc.identifier.pmid33025551
dc.identifier.scopus2-s2.0-85092179929
dc.identifier.scopusqualityQ1
dc.identifier.startpage1301en_US
dc.identifier.urihttps://hdl.handle.net/11468/8364
dc.identifier.volume44en_US
dc.identifier.wosWOS:000575724600003
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÜnal, Edip
dc.institutionauthorKarakaya, Amine Aktar
dc.institutionauthorBeştaş, Aslı
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofJournal of Endocrinological Investigation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAMHR2en_US
dc.subjectPersistent müllerian duct syndromeen_US
dc.subjectNovel mutationen_US
dc.subjectUndescended testesen_US
dc.titleIdentification of four novel variant in the AMHR2 gene in six unrelated Turkish familiesen_US
dc.titleIdentification of four novel variant in the AMHR2 gene in six unrelated Turkish families
dc.typeArticleen_US

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