Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
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DOI：
10.1186/s13039-014-0097-0
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发表时间：
2014
影响因子：
1.3
通讯作者：
Lebedev IN
中科院分区：
文献类型：
--
作者：
Kashevarova AA;Nazarenko LP;Schultz-Pedersen S;Skryabin NA;Salyukova OA;Chechetkina NN;Tolmacheva EN;Rudko AA;Magini P;Graziano C;Romeo G;Joss S;Tümer Z;Lebedev IN
检测特发性智力障碍（ID）患者的亚显微染色体改变可以显着改善与大脑发育和功能相关的基因组区域的划分。然而，这些染色体区域通常包含多个蛋白质编码基因和调控元件，使得对基因型-表型相关性的理解变得复杂。我们报告了两名患有智力障碍的兄弟姐妹和一名无亲属关系的非典型自闭症患者，他们有 3p26.3 微缺失，以及一名智力障碍患者，他们的 3p26.3 微重复仅包含 CNTN6 基因。使用 Agilent 60K 阵列鉴定出涉及单个基因 CNTN6 的 3p26.3 的两个 295.1 kb 微缺失和一个 766.1 kb 微重复。使用 Affymetrix CytoScan HD 染色体微阵列平台检测到 3p26.3 的另一个 271.9 kb 微缺失。 CHL1 和 CNTN4 基因虽然与 CNTN6 基因相邻，但在这两名患者中均未受到影响。 CNTN6 编码的蛋白质是免疫球蛋白超家族的成员，作为细胞粘附分子发挥作用，参与发育中的神经系统中轴突连接的形成。我们的结果表明 CNTN6 可能是 ID 的候选基因。本文的在线版本 (doi:10.1186/s13039-014-0097-0) 包含补充材料，可供授权用户使用。
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. 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. 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. The online version of this article (doi:10.1186/s13039-014-0097-0) contains supplementary material, which is available to authorized users.
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影响因子：
3.7
作者：
Cuoco C;Ronchetto P;Gimelli S;Béna F;Divizia MT;Lerone M;Mirabelli-Badenier M;Mascaretti M;Gimelli G
通讯作者：
Gimelli G
相互CNV的遗传结构。
影响因子：
4
作者：
Golzio, Christelle;Katsanis, Nicholas
通讯作者：
Katsanis, Nicholas
DOI：
10.1146/annurev-genom-091212-153408
发表时间：
2014
影响因子：
8.7
作者：
Watson CT;Marques-Bonet T;Sharp AJ;Mefford HC
通讯作者：
Mefford HC
DOI：
10.1007/978-1-61779-507-7_2
发表时间：
2012-01-01
期刊：
GENOMIC STRUCTURAL VARIANTS: METHODS AND PROTOCOLS
影响因子：
--
作者：
Vissers, Lisenka E. L. M.;Stankiewicz, Pawel
通讯作者：
Stankiewicz, Pawel
影响因子：
2.2
作者：
van Daalen E;Kemner C;Verbeek NE;van der Zwaag B;Dijkhuizen T;Rump P;Houben R;van 't Slot R;de Jonge MV;Staal WG;Beemer FA;Vorstman JA;Burbach JP;van Amstel HK;Hochstenbach R;Brilstra EH;Poot M
通讯作者：
Poot M