Background: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. Case presentation: We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. Conclusion: This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.
CITATION STYLE
Thiffault, I., Saunders, C., Jenkins, J., Raje, N., Canty, K., Sharma, M., … Safina, N. P. (2015). A patient with polymerase E1 deficiency (POLE1): Clinical features and overlap with DNA breakage/instability syndromes. BMC Medical Genetics, 16(1). https://doi.org/10.1186/s12881-015-0177-y
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