Basit öğe kaydını göster

dc.contributor.authorKIYKIM, AYÇA
dc.contributor.authorVural, Mehmet
dc.contributor.authorAPAK, Hilmi
dc.contributor.authorAkpınar, Evren
dc.contributor.authorBOZLAK, SERDAR
dc.contributor.authorDurmaz, Asude
dc.contributor.authorYıldırım, Timur
dc.contributor.authorTÜYSÜZ, Beyhan
dc.contributor.authorKasap, Büşra
dc.contributor.authorSarıtaş, Merve
dc.contributor.authorULUDAĞ ALKAYA, Dilek
dc.date.accessioned2023-02-21T08:49:45Z
dc.date.available2023-02-21T08:49:45Z
dc.identifier.citationTÜYSÜZ B., Kasap B., Sarıtaş M., ULUDAĞ ALKAYA D., BOZLAK S., KIYKIM A., Durmaz A., Yıldırım T., Akpınar E., APAK H., et al., "Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants", Bone, cilt.167, 2023
dc.identifier.issn8756-3282
dc.identifier.othervv_1032021
dc.identifier.otherav_22b203e7-dba9-47e4-9941-339228a51fe4
dc.identifier.urihttp://hdl.handle.net/20.500.12627/187001
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85142164225&origin=inward
dc.identifier.urihttps://doi.org/10.1016/j.bone.2022.116614
dc.description.abstract© 2022 Elsevier Inc.Background: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. Methods: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2–21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. Results: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. Conclusion: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.
dc.language.isoeng
dc.subjectHistoloji
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectFİZYOLOJİ
dc.subjectPATOLOJİ
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectCerrahi Tıp Bilimleri
dc.subjectPatoloji
dc.subjectYaşam Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectBiyokimya
dc.subjectFizyoloji
dc.subjectTemel Bilimler
dc.subjectEndokrinoloji, Diyabet ve Metabolizma
dc.subjectKlinik Tıp (MED)
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp
dc.subjectBiyoloji ve Biyokimya
dc.titleNatural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
dc.typeMakale
dc.relation.journalBone
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , Cerrahpaşa Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume167
dc.contributor.firstauthorID4229227


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster