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 language | English (US) |
---|---|
Article number | 31 |
Journal | BMC Medical Genetics |
Volume | 16 |
Issue number | 1 |
DOIs | |
State | Published - May 7 2015 |
Keywords
- Dysmorphism
- FILS syndrome
- Immunodeficiency
- POLE1
- Primordial dwarfism
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)