Document Type
Article
Publication Date
5-7-2015
Identifier
DOI: 10.1186/s12881-015-0177-y
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.
Journal Title
BMC medical genetics [electronic resource]
Volume
16
First Page
31
Last Page
31
MeSH Keywords
Chromosomal Instability; DNA Breaks; DNA Polymerase II; Exome; Female; Homozygote; Humans; Infant; Infant, Newborn; Mutation; Poly-ADP-Ribose Binding Proteins; Pregnancy
Keywords
POLE1, FILS syndrome, Immunodeficiency, Dysmorphism, Primordial dwarfism
Recommended Citation
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. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC medical genetics [electronic resource] 16, 31-31 (2015).
