Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
Behav Genet. 2011 Jan;41(1):125-33. doi: 10.1007/s10519-010-9389-2. Epub 2010 Aug 27.
Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.
阅读障碍是最常见的神经发育障碍之一，可能涉及许多基因参与发病机制。迄今为止，已经提出了六个候选阅读障碍基因，其中两个是通过受影响个体的罕见染色体易位确定的。通过对丹麦所有易位携带者的系统重新检查，我们已经确定了 16 种与阅读障碍相关的不同易位。在四个家庭中，易位与表型共分离，其中一个断点（在细胞遗传学水平上）与已知的阅读障碍连锁区域——15q21（DYX1）、2p13（DYX3）和 1p36（DYX8）——或未发表的 19q13 连锁区域一致。作为对这个独特队列的首次利用，我们通过对家族性易位的分子作图，在 15q21 上确定了三个新的候选阅读障碍基因 ZNF280D 和 TCF12，以及在 6q23.3 上的 PDE7B。
