کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833965 | 1065836 | 2011 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
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کلمات کلیدی
MLPAα-Gal Aα-Galactosidase A - α-گالاکتوزیداز Aenzyme replacement therapy - آنزیم جایگزین درمانGene rearrangements - بازسازی ژنLysosomal storage disease - بیماری ذخیره سازی لیزوزومیFabry disease - بیماری فابیmultiplex ligation-dependent probe amplification - تقویت پروب وابسته چندگانهERT - هستندpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازglobotriaosylceramide - گلوتروئیوسیلسرامید
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله

چکیده انگلیسی
Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased α-Gal A activity. However, in female heterozygotes, the α-Gal A activity can range from low to normal due to random X-chromosomal inactivation, and diagnostic confirmation requires identification of the family's α-Gal A gene mutation. In a young female who had occasional acroparesthesias, corneal opacities, and 15 to 50% of the lower limit of normal leukocyte α-Gal A activity, α-Gal A sequencing in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an α-Gal A mutation. Subsequent gene dosage analyses identified a large α-Gal A deletion confirming her heterozygosity, and she was started on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (> 50 bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are “sequencing cryptic,” resolving molecular diagnostic dilemmas.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 314-318
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 314-318
نویسندگان
Ulla Feldt-Rasmussen, Robert Dobrovolny, Irina Nazarenko, Martin Ballegaard, Lis Hasholt, Ã
se K. Rasmussen, Erik I. Christensen, Soren S. Sorensen, Flemming Wibrand, Robert J. Desnick,