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

Abstract

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.

• Authors: Karen Grønskov, Birgitte Diness, Michelle Stahlhut, Monica Zilmer, Zeynep Tümer, Anne-Marie Bisgaard, Karen Brøndum-Nielsen
• Journal: European journal of medical genetics (Eur J Med Genet) 2014 May-Jun Vol. 57 Issue 6 Pg. 284-7 ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 24727054 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Chemical References

• ARX protein, human
• Homeodomain Proteins
• Transcription Factors

Topics

• Ataxia (genetics, pathology)
• Base Sequence
• Child, Preschool
• DNA Mutational Analysis
• Gene Duplication
• Homeodomain Proteins (genetics)
• Humans
• Male
• Mental Retardation, X-Linked (genetics, pathology)
• Mosaicism
• Phenotype
• Seizures (genetics, pathology)
• Transcription Factors (genetics)