Unknown

Dataset Information

0

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.


ABSTRACT: Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.

SUBMITTER: Hebbar M 

PROVIDER: S-EPMC4885364 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

altmetric image

Publications

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

Hebbar Malavika M   Girisha Katta M KM   Shukla Anju A  

BMJ case reports 20160513


Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD. ...[more]

Similar Datasets

| S-EPMC9120113 | biostudies-literature
| S-EPMC5297198 | biostudies-literature
| S-EPMC2518658 | biostudies-literature
| S-EPMC5582518 | biostudies-literature
| S-EPMC9239300 | biostudies-literature
| S-EPMC4348862 | biostudies-literature
| S-EPMC5524338 | biostudies-literature
| S-EPMC2734498 | biostudies-literature
| S-EPMC3115309 | biostudies-literature
| S-EPMC9322484 | biostudies-literature