A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
| Autor: | Lauren E. Grote, Greyson P Twist, Mukta Sharma, Nicole P. Safina, Emily G. Farrow, Carol J Saunders, Janda L Jenkins, Nikita Raje, Stephen F. Kingsmore, Isabelle Thiffault, Holly I Welsh, Kristi Canty, Neil A. Miller, Lee Zellmer, David L. Zwick |
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| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Microcephaly Case Report Poikiloderma Biology Pregnancy Chromosomal Instability Chromosome instability Genetics medicine Humans Immunodeficiency Genetics(clinical) Exome Poly-ADP-Ribose Binding Proteins Genetics (clinical) Exome sequencing DNA Breaks Homozygote Infant Newborn Cytogenetics Infant Primordial dwarfism DNA Polymerase II POLE1 medicine.disease Dysmorphism Mutation Female Chromosome instability syndrome FILS syndrome |
| Zdroj: | BMC Medical Genetics |
| ISSN: | 1471-2350 |
| DOI: | 10.1186/s12881-015-0177-y |
| Popis: | 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. Electronic supplementary material The online version of this article (doi:10.1186/s12881-015-0177-y) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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