Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

KALAYCI YİĞİN A., Duz M. B., SEVEN M.

GLOBAL MEDICAL GENETICS, cilt.09, sa.01, ss.23-28, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 09 Sayı: 01
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1055/s-0041-1736482
  • Dergi Adı: GLOBAL MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.23-28
  • Anahtar Kelimeler: cleidocranial dysplasia, RUNX mutation, Sanger sequencing, rare findings, GENE, PATIENT, BONE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and parietal bossing, hypertelorism, brachycephaly, short stature, supernumerary, and late erupting teeth. Radiographic studies can reveal involvement of multiple bones including skull, chest, pelvis, and limbs. CCD can be diagnosed with clinical and radiological evaluation and validated by molecular studies. Heterozygous loss of function RUNX2 gene, which plays an important role in osteogenesis and differentiation of precursor cells, causes CCD phenotype.