Publications by authors named "Soren Schultz-Pedersen"

2 Publications

  • Page 1 of 1

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

Mol Cytogenet 2014 31;7(1):97. Epub 2014 Dec 31.

Laboratory of Cytogenetics, Institute of Medical Genetics, 10 Nab. Ushaiki, 634050 Tomsk, Russia ; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia.

Background: Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of the regions of the genome that are associated with brain development and function. However, these chromosomal regions usually contain several protein-coding genes and regulatory elements, complicating the understanding of genotype-phenotype correlations. We report two siblings with ID and an unrelated patient with atypical autism who had 3p26.3 microdeletions and one intellectually disabled patient with a 3p26.3 microduplication encompassing only the CNTN6 gene.

Results: Two 295.1-kb microdeletions and one 766.1-kb microduplication of 3p26.3 involving a single gene, CNTN6, were identified with an Agilent 60K array. Another 271.9-kb microdeletion of 3p26.3 was detected using an Affymetrix CytoScan HD chromosome microarray platform. The CHL1 and CNTN4 genes, although adjacent to the CNTN6 gene, were not affected in either of these patients.

Conclusions: The protein encoded by CNTN6 is a member of the immunoglobulin superfamily and functions as a cell adhesion molecule that is involved in the formation of axon connections in the developing nervous system. Our results indicate that CNTN6 may be a candidate gene for ID.
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January 2015

[MR scanning of cerebrum in the investigation of delayed development in children. Syntelencephaly--is it really so rare?].

Ugeskr Laeger 2002 Sep;164(36):4188-90

Arhus Universitetshospital, Skejby Sygehus, paediatrisk afdeling, MR-centret.

A 14-month-old boy presented with a mild global developmental delay, plagiocephaly, and a mild mid-face dysmorphology, including hypertelorism. At 24 months of age, early signs of a spastic diplegic cerebral palsy were noted. MRI of the brain showed middle interhemispheric fusion: syntelencephaly.
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September 2002