期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 77, 期 1, 页码 16-26出版社
CELL PRESS
DOI: 10.1086/431216
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资金
- NINDS NIH HHS [P50 NS016367, NS16367] Funding Source: Medline
Biotin- responsive basal ganglia disease ( BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis, and eventual death, if left untreated. BBGD symptoms disappear within a few days with the administration of high doses of biotin ( 5 - 10 mg/ kg/ d). On brain magnetic resonance imaging examination, patients display central bilateral necrosis in the head of the caudate, with complete or partial involvement of the putamen. All patients diagnosed to date are of Saudi, Syrian, or Yemeni ancestry, and all have consanguineous parents. Using linkage analysis in four families, we mapped the genetic defect near marker D2S2158 in 2q36.3 (;) to a minimum candidate region (similar to 2 Mb) between D2S2354 and D2S1256, on the basis of LOD p 5.9 v p 0.0 complete homozygosity. In this segment, each family displayed one of two different missense mutations that altered the coding sequence of SLC19A3, the gene for a transporter related to the reduced- folate ( encoded by SLC19A1) and thiamin ( encoded by SLC19A2) transporters.
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