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Open Access 01-12-2015 | Case report

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

Authors: Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F Kingsmore, Nicole P Safina

Published in: BMC Medical Genetics | Issue 1/2015

Abstract

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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Title: A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Authors: Isabelle Thiffault
Carol Saunders
Janda Jenkins
Nikita Raje
Kristi Canty
Mukta Sharma
Lauren Grote
Holly I Welsh
Emily Farrow
Greyson Twist
Neil Miller
David Zwick
Lee Zellmer
Stephen F Kingsmore
Nicole P Safina
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2015
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-015-0177-y

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

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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