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Free Content HMBS Mutations in Chinese Patients with Acute Intermittent Porphyria

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Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from Taiwan identified twenty-five HMBS mutations. There were 10 missense (40%), four nonsense (16%), five frame-shift (20%) and six splice site (24%) mutations. More than a half (15/25, 60%) of these mutations are predicted to produce a truncated protein. Four (c.33 + 5C>A, Arg26Cys, Arg26His, Arg325X) occurred more than once among the 24 families and one individual carried two mutations in the same allele, a missense (Gly221Asp) and a splice site mutation (c.652-1G>A). Of the 25 mutations, eleven were novel (Arg149Pro, Gly218Arg, Asn322X, Gly221Asp, Pro313X, c.88-4_-16delAAGTCTCTACCCG, c.1008_1019delCAGCCTGGCCAA, c.113delT, c.88-4_-16delAAGTCTCTACCCGinsCA, c.160delA, c.902_909delTCCCTGCC). No correlation between genetic defect and phenotype (both clinical and biochemical) was observed in this study.
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Keywords: Chinese; HMBS; acute intermittent porphyria; mutations

Document Type: Short Communication

Affiliations: 1: Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan 2: Department of Neurology, Chang-Gung Memorial Hospital and University, Taipei, Taiwan 3: Department of Neurology, Taoyuan General Hospital, Department of Health, Taoyuan, Taiwan 4: Department of Neurology, Chang-Gung Memorial Hospital-Kaohsiung Medical Center, Kaohsiung, Taiwan 5: Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK

Publication date: September 1, 2008

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