title: Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.
abstract: 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).
authors.affiliation: Department of Medical Genetics, Medical Faculty, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. Electronic address: firdevsdincsoy@gmail.com.
authors.forename: Firdevs
authors.initials: F
authors.lastname: Dinçsoy Bir
authors.affiliation: 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.
authors.forename: Nuriye
authors.initials: N
authors.lastname: Dinçkan
authors.affiliation: Departmentof Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Yeliz
authors.initials: Y
authors.lastname: Güven
authors.affiliation: Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Firdevs
authors.initials: F
authors.lastname: Baş
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Umut
authors.initials: U
authors.lastname: Altunoğlu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Yeditepe University, Istanbul, Turkey.
authors.forename: Senem S
authors.initials: SS
authors.lastname: Kuvvetli
authors.affiliation: Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Poyrazoğlu
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Güven
authors.initials: G
authors.lastname: Toksoy
authors.affiliation: Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey.
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Z Oya
authors.initials: ZO
authors.lastname: Uyguner
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics; D015519:Bone Density / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002968:Clavicle / Q000473:pathology; D002973:Cleidocranial Dysplasia / Q000235:genetics* / Q000473:pathology; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000235:genetics; D008875:Middle Aged; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human
keywords: Cleidocranial dysplasia; Dental abnormalities; Osteoporosis; RUNX2; Underdeveloped clavicles