|Title:||HMBS mutations in chinese patients with acute intermittent porphyria||Authors:||Yang C.-C.
|Issue Date:||2008||Journal Volume:||72||Journal Issue:||5||Start page/Pages:||683-686||Source:||Annals of Human Genetics||Abstract:||
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. ? 2008 The Authors Journal compilation ? 2008 Blackwell Publishing Ltd/University College London.
|ISSN:||0003-4800||DOI:||10.1111/j.1469-1809.2008.00463.x||SDG/Keyword:||arginine; asparagine; drug; glycine; heme; hormone; porphobilinogen deaminase; proline; abdominal pain; acute intermittent porphyria; adolescent; adult; allele; article; autosomal dominant disorder; Chinese; clinical article; controlled study; diet restriction; disease association; enzyme deficiency; family study; female; frameshift mutation; gene mutation; genetic disorder; heme synthesis; human; male; missense mutation; nonsense mutation; paresis; phenotype; priority journal; recurrent disease; Taiwan; urine color; Adolescent; Adult; Asian Continental Ancestry Group; Base Sequence; DNA; DNA Mutational Analysis; Female; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphyria, Acute Intermittent; Taiwan
|Appears in Collections:||醫學系|
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