Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
| Autor: | Olga A. Salyukova, Aleksey A Rudko, Zeynep Tümer, Claudio Graziano, Igor N. Lebedev, E. N. Tolmacheva, Shelagh Joss, Soren Schultz-Pedersen, Giovanni Romeo, Pamela Magini, Nataliya N. Chechetkina, A. A. Kashevarova, Lyudmila P. Nazarenko, Nikolay A. Skryabin |
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| Rok vydání: | 2014 |
| Předmět: |
Candidate gene
Intellectual disability CNTN6 Biology Biochemistry Genome Reciprocal microdeletions/microduplications 3p26.3 microduplication CHL1 3p26.3 microdeletion 03 medical and health sciences 0302 clinical medicine Genetics medicine Genetics(clinical) Molecular Biology Gene Genetics (clinical) 030304 developmental biology Biochemistry medical 0303 health sciences Research Biochemistry (medical) Chromosome medicine.disease Human genetics 3. Good health Molecular Medicine Immunoglobulin superfamily 030217 neurology & neurosurgery |
| Zdroj: | Molecular Cytogenetics |
| ISSN: | 1755-8166 |
| DOI: | 10.1186/s13039-014-0097-0 |
| Popis: | 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. Electronic supplementary material The online version of this article (doi:10.1186/s13039-014-0097-0) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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