Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
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DOI：
10.1038/ejhg.2008.7
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发表时间：
2008-06-01
影响因子：
5.2
通讯作者：
Crisponi, Laura
中科院分区：
文献类型：
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作者：
Floris, Chiara;Rassu, Stefania;Crisponi, Laura
最近的研究估计，自闭症谱系障碍（ASD）中涉及许多不同染色体的细胞遗传学异常率为3-5%。在这里，我们报告两个无关的男性患者从头易位，自闭症行为和精神发育迟滞。这两例患者分别携带平衡染色体易位t（5; 8）（q14.3; q23.3）和t（6; 8）（q13; q23.2）。使用染色体5q14.3、6 q13和8 q23上的BAC克隆作图，构建了覆盖易位所涉及区域的详细物理图谱。使用这些基因组克隆进行荧光原位杂交（FISH）分析。我们精细定位了8号染色体上的两个易位断点，确定了它们在短的5 Mb基因组区域内的位置。两名患者8号染色体上的断点不中断任何已知基因，但都在含有CSMD 3基因的区域中映射，因此可以被认为是ASD的候选者。
Recent studies estimated a rate of 3-5% of cytogenetic abnormalities involving many different chromosomes in autistic spectrum disorders (ASDs). Here, we report on two unrelated male patients with de novo translocations, autistic behaviour and psychomotor delay. These two patients carry a balanced chromosome translocation t(5; 8)(q14.3; q23.3) and t(6; 8)(q13; q23.2), respectively. A detailed physical map covering the regions involved in the translocations was constructed using BAC clones mapping on chromosomes 5q14.3, 6q13 and 8q23. Fluorescence in situ hybridisation (FISH) analyses were carried out using these genomic clones. We fine mapped the two translocation breakpoints on chromosomes 8 identifying their position within a short 5 Mb genomic region. Breakpoints on chromosomes 8 in both patients do not interrupt any known gene but both map in a region containing the CSMD3 gene, which thereby can be considered as a candidate for ASDs.