TY - JOUR
T1 - Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
AU - Grønskov, Karen
AU - Diness, Birgitte
AU - Stahlhut, Michelle
AU - Zilmer, Monica
AU - Tümer, Zeynep
AU - Bisgaard, Anne-Marie
AU - Brøndum-Nielsen, Karen
N1 - Copyright © 2014 Elsevier Masson SAS. All rights reserved.
PY - 2014/4/15
Y1 - 2014/4/15
N2 - 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.
AB - 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.
U2 - 10.1016/j.ejmg.2014.03.009
DO - 10.1016/j.ejmg.2014.03.009
M3 - Journal article
C2 - 24727054
SN - 1769-7212
VL - 57
SP - 284
EP - 287
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
ER -