Publication:
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central

Simple item page
dc.contributor.authorKIRKGÖZ, TARIK
dc.contributor.authorKAYGUSUZ, SARE BETÜL
dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorGÜRPINAR TOSUN, BUŞRA
dc.contributor.authorELTAN, MEHMET
dc.contributor.authorSEVEN MENEVŞE, TUBA
dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorARMAN, AHMET
dc.contributor.authorDEMİRCİOĞLU, SERAP
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsKIRKGÖZ T., KAYGUSUZ S. B., ALAVANDA C., Helvacioglu D., Abali Z. Y., GÜRPINAR TOSUN B., ELTAN M., SEVEN MENEVŞE T., GÜRAN T., ARMAN A., et al.
dc.date.accessioned2023-03-27T08:52:46Z
dc.date.available2023-03-27T08:52:46Z
dc.date.issued2023-03-01
dc.description.abstractObjectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.Methods: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives. MKRN3 gene was analyzed by next-generation sequencing.Results: Possible pathogenic variants were found in 2/53 patients with family history of CPP (3.8%) and 1/49 patient without family history (2%). A novel heterozygous c.1A > G (p.Met1Val) mutation, a novel heterozygous c.683_684delCA (p.Ser228*) and a previously reported c.482dupC (Ala162Glyfs*) frameshift variations were detected. The two novel variants are predicted to be pathogenic in silico analyses.Conclusions: In our cohort, possible pathogenic variants in MKRN3 gene were detected in 2.9% of the total cohort, 3.8% of the familial and 2% of the nonfamilial cases, slightly lower than that reported in the literature. Two novel variants detected contribute to the molecular repertoire of MKRN3 defects in CPP. Classical pattern of paternal inheritance has been demonstrated in all three cases. However, the father of the patient 3 did not have history of CPP suggesting that the father inherited this variant from his mother and had phenotype skipping. Therefore, we emphasize that the absence of history of CPP in the father does not exclude the possibility of a MKRN3 mutation.
dc.identifier.citationKIRKGÖZ T., KAYGUSUZ S. B., ALAVANDA C., Helvacioglu D., Abali Z. Y., GÜRPINAR TOSUN B., ELTAN M., SEVEN MENEVŞE T., GÜRAN T., ARMAN A., et al., "Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central", JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2023
dc.identifier.doi10.1515/jpem-2022-0645
dc.identifier.issn0334-018X
dc.identifier.urihttps://hdl.handle.net/11424/287839
dc.language.isoeng
dc.relation.ispartofJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectInternal Diseases
dc.subjectEndocrinology and Metabolic Diseases
dc.subjectHealth Sciences
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectPEDİATRİ
dc.subjectENDOCRINOLOGY & METABOLISM
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectPEDIATRICS
dc.subjectPediatri
dc.subjectEndokrin ve Otonom Sistemler
dc.subjectPediatri, Perinatoloji ve Çocuk Sağlığı
dc.subjectEndokrinoloji, Diyabet ve Metabolizma
dc.subjectEndokrinoloji
dc.subjectYaşam Bilimleri
dc.subjectPediatrics
dc.subjectEndocrine and Autonomic Systems
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectEndocrinology
dc.subjectLife Sciences
dc.subjectcentral precocious puberty
dc.subjectfamilial
dc.subjectmakorin
dc.subjectMKRN3 mutation
dc.subjectpubertal onset
dc.subjectCENTRAL PRECOCIOUS PUBERTY
dc.subjectIMPRINTED GENE
dc.subjectPRADER-WILLI
dc.subjectMKRN3 MUTATIONS
dc.subjectVARIANTS
dc.titleMolecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central
dc.typearticle
dspace.entity.typePublication
local.avesis.idce443cd6-f1db-43ba-87ef-98d7f1afa928
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
relation.isAuthorOfPublicationf7221220-6470-4a72-9aeb-bafab5f1977a
relation.isAuthorOfPublication322fae3b-04ee-4e26-a3e6-f6c9070416a4
relation.isAuthorOfPublication2ad76025-5a7e-429e-8f0a-3da70e4561a5
relation.isAuthorOfPublication14c5328e-3f10-42e9-93da-099cf2429c0e
relation.isAuthorOfPublication6a6230d4-77e6-4a2c-88ff-1284e127cee5
relation.isAuthorOfPublicationaca887f4-ea74-4a09-819f-c5c8a23960dc
relation.isAuthorOfPublicationcd5bac46-bf24-476a-80cb-1cea576c283a
relation.isAuthorOfPublicationaeb6705c-76c3-423f-bf49-bf3e1bb0edf1
relation.isAuthorOfPublication1c59e516-384a-4161-af91-3c3088f49d21
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscoveryf7221220-6470-4a72-9aeb-bafab5f1977a

Files

Collections

Research Outputs