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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	European Journal of Medical Genetics
Vol/bind	57
Udgave nummer	6
Sider (fra-til)	284-287
Antal sider	4
ISSN	1769-7212
DOI	https://doi.org/10.1016/j.ejmg.2014.03.009
Status	Udgivet - maj 2014

Adgang til dokumentet

10.1016/j.ejmg.2014.03.009

Citationsformater

@article{bb1cae7c6d2147e49369bf3c48999631,

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",

month = may,

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

language = "English",

volume = "57",

pages = "284--287",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "6",

}

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

Adgang til dokumentet

Fingeraftryk

Citationsformater