[HTML][HTML] A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

I Thiffault, C Saunders, J Jenkins, N Raje, K Canty… - BMC medical …, 2015 - Springer
I Thiffault, C Saunders, J Jenkins, N Raje, K Canty, M Sharma, L Grote, HI Welsh, E Farrow
BMC medical genetics, 2015Springer
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 …
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.
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