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dc.contributor.authorTasdelen, Elifcan
dc.contributor.authorMihci, Ercan
dc.contributor.authorKaraman, Volkan
dc.contributor.authorNUR, BANU
dc.contributor.authorUyguner, Zehra Oya
dc.contributor.authorBerkay, Ezgi Gizem
dc.contributor.authorElkanova, Leyla
dc.contributor.authorKalayci, Tugba
dc.contributor.authorULUDAĞ ALKAYA, Dilek
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorCefle, Kivanc
dc.contributor.authorBayramoglu, Zuhal
dc.contributor.authorToksoy, Guven
dc.contributor.authorTÜYSÜZ, Beyhan
dc.contributor.authorKayserili, Hulya
dc.contributor.authorPalanduz, Sukru
dc.contributor.authorozturk, Sukru
dc.contributor.authorGunes, Nilay
dc.date.accessioned2021-12-10T13:20:07Z
dc.date.available2021-12-10T13:20:07Z
dc.identifier.citationBerkay E. G. , Elkanova L., Kalayci T., ULUDAĞ ALKAYA D., Altunoglu U., Cefle K., Mihci E., NUR B., Tasdelen E., Bayramoglu Z., et al., "Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021
dc.identifier.issn1552-4825
dc.identifier.othervv_1032021
dc.identifier.otherav_ffc9a3e9-d1a2-4dcd-a9c7-1a7dba87fb93
dc.identifier.urihttp://hdl.handle.net/20.500.12627/175956
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.62261
dc.description.abstractLoss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C > T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G > A, c.1088G > T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort.
dc.language.isoeng
dc.subjectGENETİK VE HAYAT
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectHealth Sciences
dc.subjectLife Sciences
dc.subjectGenetics (clinical)
dc.subjectMolecular Biology
dc.subjectGenetics
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıbbi Genetik
dc.titleSkeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
dc.typeMakale
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.contributor.firstauthorID2634522


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