Biallelic mutations in TOP3B cause a Bloom syndrome-like disorder
Xiaowei Lei · FENS Forum 2024
Bloom syndrome (BS) is a rare monogenic, autosomal recessive disorder characterized by pre-postnatal growth deficiency, short stature, sun-sensitive facial rash and and an greatly increased risk of developing cancers at early age. Additionally, cells from BS patients display increased sister chromatid exchanges (SCEs) as a key cytogenetic hallmark.In addition to BLM, 2018, Martin et al reported biallelic pathogenic TOP3A mutations in 10 patients who showed prenatal growth restriction, microcephaly, dwarfism and elevated SCEs, which are Bloom syndrome-like. TOP3A belong to the conserved type IA
ePoster · Neuroscience