Supplementary Material for: Novel Mutation in the <i>ABCA1</i> Gene Identified in a Chinese Patient with Dementia and Atherothrombotic Cerebral Infarction
2008-10-08T00:00:00Z (GMT) by
<i>Background:</i> To date, 81 mutations of ATP-binding cassette transporter 1 (<i>ABCA1)</i> have been reported. However, no <i>ABCA1</i> mutation has been reported in the Chinese population. <i>Methods:</i> We used direct sequencing to screen for <i>ABCA1</i> mutations in 72 patients with both atherosclerotic cerebral infarction (ACI) and plasma high-density lipoprotein cholesterol (HDL-C) < 0.8 mmol/l. The functionality of the mutation was verified using 200 unrelated controls and 76 patients with ACI and normal HDL-C by PCR-RFLP analysis. <i>Results:</i> One patient with dementia prior to ACI was found to carry the heterozygous Y2206D mutation, which has not been reported previously. The patient had a medical history of atherosclerosis in the coronary and carotid arteries going back 40 years and splenohepatomegalia for 13 years, with a low plasma HDL-C level (0.66 mmol/l) and apolipoprotein A1 level (0.61 mmol/l). During the past decade, he had developed symptoms of dementia. Sixteen months prior to the study, he was admitted to hospital for an ACI. <i>Conclusion:</i> The results suggest that this patient is most likely a patient with familial hypoalphalipoproteinemia and that the Y2206D mutation may be associated with not only a lower level of HDL-C, but also with dementia.