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

Karen Grønskov; Birgitte Diness; Michelle Stahlhut; Monica Zilmer; Zeynep Tümer; Anne-Marie Bisgaard; Karen Brøndum-Nielsen

doi:10.1016/j.ejmg.2014.03.009

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

Karen Grønskov, Birgitte Diness, Michelle Stahlhut, Monica Zilmer, Zeynep Tümer, Anne-Marie Bisgaard, Karen Brøndum-Nielsen

2 Citations (Scopus)

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.

Original language	English
Journal	European Journal of Medical Genetics
Volume	57
Issue number	6
Pages (from-to)	284-287
Number of pages	4
ISSN	1769-7212
DOIs	https://doi.org/10.1016/j.ejmg.2014.03.009
Publication status	Published - May 2014

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title = "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.",

author = "Karen Gr{\o}nskov and Birgitte Diness and Michelle Stahlhut and Monica Zilmer and Zeynep T{\"u}mer and Anne-Marie Bisgaard and Karen Br{\o}ndum-Nielsen",

year = "2014",

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doi = "10.1016/j.ejmg.2014.03.009",

language = "English",

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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

PY - 2014/5

Y1 - 2014/5

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 -

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

Abstract

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