Cancer Predisposition_Paediatric

Gene: KDM3B

Green List (high evidence)

PMID: 30885698
2 two de-novo KDM3B mutations identified.
- 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her
buttock
- 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability

PMID: 29351919
2 individuals with KDM3B variants
- 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia
- 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and
moderate intellectual disability.
KDM3B is highly intolerant to both protein-truncating variants (pLI=1·00)
and non-synonymous variation (Z=4·99; the Z score is the
deviation of observation from expectation for non-synonymous variants).

KDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition
Sources: Literature

Created: 11 Jul 2021, 6:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PMID: 30885698
• 29351919