کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2058498 1543963 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی، ژنتیک و زیست شناسی مولکولی (عمومی)
پیش نمایش صفحه اول مقاله
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
چکیده انگلیسی


• Biochemical prenatal investigation in amniotic fluid and amniocytes were inconclusive for ML II/III.
• DNA analysis showed fetus heterozygous for GNPTAB mutation c.[3503_3504delTC].

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis, we suggest DNA analysis should be performed whenever possible.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Meta Gene - Volume 2, December 2014, Pages 403–406
نویسندگان
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