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

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

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Article number31
JournalBMC Medical Genetics
Volume16
Issue number1
DOIs
StatePublished - May 7 2015

Keywords

  • Dysmorphism
  • FILS syndrome
  • Immunodeficiency
  • POLE1
  • Primordial dwarfism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Thiffault, I., Saunders, C., Jenkins, J., Raje, N., Canty, K., Sharma, M., Grote, L., Welsh, H. I., Farrow, E., Twist, G., Miller, N., Zwick, D., Zellmer, L., Kingsmore, S. F., & 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), [31]. https://doi.org/10.1186/s12881-015-0177-y