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Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

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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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume57
Issue number6
Pages (from-to)284-7
Number of pages4
ISSN1769-7212
DOIs
Publication statusPublished - 15 Apr 2014

ID: 44552776