کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2813956 1569490 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
چکیده انگلیسی

A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome. The duplication was detected by PCR amplification followed by fragment length analysis and was located in exon 2 spanning the two polyalanine tracts commonly seen to expand. Detection of the duplication by DNA sequencing was difficult due to preferential sequencing of the normal allele, demonstrating the superiority of fragment length analysis in mosaic cases. The clinical symptoms were mild to moderate developmental delay with only the hand dystonia to suggest Partington syndrome. This patient is the first male reported to be mosaic for the duplication, and his clinical features are subtle. This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 57, Issue 6, May–June 2014, Pages 284–287
نویسندگان
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