TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
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DOI：
10.1038/sj.ejhg.5201674
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发表时间：
2006-10-01
影响因子：
5.2
通讯作者：
Kooy, R. Frank
中科院分区：
文献类型：
--
作者：
Rooms, Liesbeth;Reyniers, Edwin;Kooy, R. Frank
带有亚端粒6q缺失的同卵双胞胎兄弟表现为智力迟钝、小头畸形、癫痫、大池增大、肘部凹陷、高弓腭和薄上唇。在患者的母亲中检测到相同的亚端粒缺失，呈现出较温和的表型。我们将断点缩小到大约100 kb的区域，并估计末端缺失的大小为1.2 Mb。该区域包含4个已知基因和7个假定基因。与其他报道的患者的缺失比较表明，TBP是该综合征中最可能的智力迟钝的候选基因。我们通过实时PCR证实患者的TBP基因表达减少了一半。对先前描述的杂合tbp小鼠进行的认知和行为测试表明，tbp可能参与认知发育。
Monozygotic twin brothers with a subtelomeric 6q deletion presented with mental retardation, microcephaly, seizures, an enlarged cisterna magna, dimpling at elbows, a high arched palate and a thin upper lip. The same subtelomeric deletion was detected in the mother of the patients, presenting with a milder phenotype. We narrowed down the breakpoint to a region of approximately 100 kb and estimated the size of the terminal deletion to be 1.2 Mb. This region contains four known and seven putative genes. Comparison of the deletion with other reported patients showed TBP was the most plausible candidate gene for the mental retardation in this syndrome. We verified that the TBP gene expression was halved in our patients using real-time PCR. Cognitive and behavioural tests performed on previously described heterozygous tbp mice suggested that TBP is potentially involved in cognitive development.