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Article

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.

Clinical genetics - 1 Jul 2025

Pagnamenta Alistair T, Hashim Mona, Kennedy Joanna, Lawton Beth, Offiah Amaka C, Taylor Jenny C, Smithson Sarah F

Abstract excerpt

CBFB encodes the core-binding factor β subunit, a small protein which heterodimerises with RUNX1-3 and activates transcription of genes important in bone development. Recently, five families with cleidocranial dysplasia (CCD) were identified harbouring presumed loss of function variants in CBFB. Prompted by a multidisciplinary team review of an affected mother and daughter from the 100 000 Genomes Project with...

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Source

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Identifiers

PMID: 39894570
DOI: 10.1111/cge.14709
PMCID: PMC12136864

Genes

CBFB
GC
RUNX1
RUNX2

Provenance

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A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.PMID 39894570Read ↗

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