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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Journal article   Open access   Peer reviewed

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, …
BMC medical genetics, Vol.16(1), pp.31-31
05/07/2015
DOI: 10.1186/s12881-015-0177-y
PMCID: PMC4630961
PMID: 25948378
url
https://doi.org/10.1186/s12881-015-0177-yView
Published (Version of record) Open Access

Abstract

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. 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. This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.
 Chromosomal Instability - genetics DNA Breaks DNA Polymerase II - deficiency DNA Polymerase II - genetics Exome - genetics Female Homozygote Humans Infant Infant, Newborn Mutation Poly-ADP-Ribose Binding Proteins Pregnancy

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