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


Bir F. D. , Dinckan N., Guven Y., Bas F., Altunoglu U., Kuvvetli S. S. , ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.60, ss.163-168, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 60 Konu: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ejmg.2016.12.007
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.163-168

Özet

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). (C) 2016 Elsevier Masson SAS. All rights reserved.