Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Autor: Dinçsoy Bir F; Department of Medical Genetics, Medical Faculty, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. Electronic address: firdevsdincsoy@gmail.com., Dinçkan N; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Diagnostic and Biomedical Sciences, Center for Craniofacial Research, University of Texas Health Science Center, Houston, TX, USA., Güven Y; Departmentof Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey., Baş F; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Altunoğlu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Kuvvetli SS; Department of Pedodontics, Faculty of Dentistry, Yeditepe University, Istanbul, Turkey., Poyrazoğlu Ş; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Kayserili H; Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2017 Mar; Vol. 60 (3), pp. 163-168. Date of Electronic Publication: 2016 Dec 24.
DOI: 10.1016/j.ejmg.2016.12.007
Abstrakt: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).
(Copyright © 2016 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: