Title |
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
|
---|---|
Published in |
Molecular Cytogenetics, December 2014
|
DOI | 10.1186/s13039-014-0097-0 |
Pubmed ID | |
Authors |
Anna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Aleksey A Rudko, Pamela Magini, Claudio Graziano, Giovanni Romeo, Shelagh Joss, Zeynep Tümer, Igor N Lebedev |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Ireland | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | 1% |
Russia | 1 | 1% |
France | 1 | 1% |
Unknown | 73 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 12 | 16% |
Student > Bachelor | 11 | 14% |
Unspecified | 8 | 11% |
Researcher | 7 | 9% |
Other | 6 | 8% |
Other | 19 | 25% |
Unknown | 13 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 16 | 21% |
Medicine and Dentistry | 11 | 14% |
Agricultural and Biological Sciences | 11 | 14% |
Unspecified | 8 | 11% |
Psychology | 4 | 5% |
Other | 11 | 14% |
Unknown | 15 | 20% |