Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases

Molecular Syndromology

Je-Yong Choi¹  Seema Kapoor¹  Min-Su Han¹  Ankur Singh¹  Mridula Goswami¹  Gaurav Pradhan¹ 

[1] aDepartment of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, New Delhi, India

关键词: Clavicles;    Cleidocranial dysplasia;    RUNX2;   

DOI  :  10.1159/000375354

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.166C>T; p.Q56X) in its glutamine-alanine (Q/A) repeat domain. The genotypes of all published cases of CCD with normal clavicles were reviewed. Additional dental and otolaryngological features were enlisted. Three cases with a milder dental phenotype and normal clavicles were associated with a mutation in the Q/A domain. Collectively, we found a novel CCD-causing nonsense mutation p.Q56X in the Q/A domain of the RUNX2 gene.

【 授权许可】

Unknown