Constitutional trisomy 8 and Behçet syndrome
Kristin Becker1, Oliver Fitzgerald, Andrew J Green
1North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK. kristin.becker@cd-tr.wales.nhs.uk
American Journal of Medical Genetics. Part A
|April 9, 2009
Summary
Individuals with trisomy 8, whether constitutional or bone marrow-confined, face an elevated risk of developing Behçet syndrome features. This suggests a link between chromosome 8 gene dosage and the condition.
Area of Science:
- Genetics
- Immunology
- Clinical Medicine
Background:
- Constitutional trisomy 8 presents with developmental delay and distinct physical features.
- Behçet syndrome is linked to myelodysplastic syndromes with trisomy 8 in bone marrow in some cases.
Observation:
- Four patients with constitutional trisomy 8 developed Behçet syndrome symptoms, primarily mucocutaneous ulceration.
- Neutrophil defensin gene (DEFA1A3) copy number was examined in one patient, her parents, Behçet syndrome patients, and controls.
Findings:
- The patient with constitutional trisomy 8 had the highest DEFA1A3 copy number (14), with elevated levels in her parents.
- Behçet syndrome patients showed a lower mean DEFA1A3 copy number (5.1) compared to controls (6.8).
Implications:
- Constitutional trisomy 8 and bone marrow-confined trisomy 8 increase the risk for Behçet syndrome.
- Increased chromosome 8 gene dosage is a potential mechanism requiring further investigation of candidate genes.
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