Skeletal dysplasia
Gene: CBFB
CBFB variant have been associated with Cleidocranial dysplasia 2 (OMIM:620099) and as moderate Gen2Phen gene for CBFB-related cleidocranial dysplasia. PMID: 36241386 reports five CBFB variants in eight individuals from five unrelated families with Cleidocranial dysplasia 2.Created: 4 Jun 2024, 9:25 a.m. | Last Modified: 4 Jun 2024, 9:25 a.m.
Panel Version: 1.1
Beyltjens et al describe 8 individuals from 5 families (ascertained via GeneMatcher) with cleidocranial dysplasia and rare severe consequence variants in CBFB. Previous analysis of RUNX2 had been negative. CBFB encodes the core-binding factor β subunit, which can interact with RUNX2 to form a heterodimeric transcription factor - so biologically was a good candidate gene, even before the Beyltjens et al study. Aware of data in 100kGP that supports this new gene-disease association.
Sources: LiteratureCreated: 16 May 2024, 10:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CBFB was added gene: CBFB was added to Skeletal dysplasia. Sources: Literature,Expert Review Amber Q2_24_promote_green, Q2_24_MOI, Q2_24_NHS_review tags were added to gene: CBFB. Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBFB were set to 36241386 Phenotypes for gene: CBFB were set to Cleidocranial dysplasia 2, OMIM:620099; cleidocranial dysplasia 2, MONDO:0859307 Penetrance for gene: CBFB were set to Complete