Cytopenias and congenital anaemias

Gene: UBE2T

Comment on list classification: Upgraded status from Red to Green due to literature search.

Created: 22 Feb 2017, 5:30 p.m.

Comment on publications: Evidence for 3 unrelated cases.
PMID: 26046368 Reports 2 unrelated Japanese patients with Fanconi anemia, complementation group T. A heterozygous missense mutation leading to p.Q2E was uncovered in both patients. Additionally, both patients harbored unique mutations in their second alleles, a 23-kilobase genomic deletion in one patient and skipped exon resulting in a frameshift and premature stop codon in the other. Complementation of patient cells with wild-type UBE2T restored efficient FANCD2 monoubiquitination and nuclear foci formation, and rescued the increased sensitivity to MMC-induced chromosome breakage.
PMID 26085575, 26119737
Describe the same individual with biallelic mutations in UBE2 and undertook Sanger sequencing of genomic DNA which identified two germline mutations, a paternal deletion and a maternal duplication of exons 2–6, both caused by aluY-mediated recombination events. Just as with the patients reported by Hira et al., retroviral complementation with wild-type UBE2T rescued the ICL-induced cell cycle arrest and chromosome breakage phenotypes (26046368, 26085575, 26119737)

Created: 22 Feb 2017, 5:29 p.m.

Comment on phenotypes: Added OMIM phenotype

Created: 22 Feb 2017, 12:26 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

• 26046368

Variants in this GENE are reported as part of current diagnostic practice