Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind57
Udgave nummer6
Sider (fra-til)284-7
Antal sider4
ISSN1769-7212
DOI
StatusUdgivet - 15 apr. 2014

ID: 44552776