Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

ABSTRACT:

Background

Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 (RUNX2) is currently the only known disease-causing gene for CCD, but several studies have suggested locus heterogeneity.

Methods

The cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level.

Results

In each subject a heterozygous pathogenic variant in CBFB was detected, whereas no genomic alte

SUBMITTER: Beyltjens T 

PROVIDER: S-EPMC10176335 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature