Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
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DOI：
10.1038/ejhg.2014.51
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发表时间：
2015-01-01
影响因子：
5.2
通讯作者：
Cheung, Sau W.
中科院分区：
文献类型：
--
作者：
Peddibhotla, Sirisha;Nagamani, Sandesh C. S.;Cheung, Sau W.
染色体6 q末端缺失的患者表现为脑结构异常，包括胼胝体发育不全、脑积水、脑室周围结节性异位和小脑畸形。6 q27区域含有对脑的正常发育重要的基因，并且描绘脑结构异常的关键缺失区域可能导致更好的基因型-表型相关性。我们对7例染色体6 q27缺失的无关患者进行了详细的临床和分子特征分析。所有患者均有脑结构异常。使用阵列比较基因组杂交，我们映射这些缺失的大小，程度和基因组内容。最小的重叠区域跨越1.7 Mb，包含DLL 1、THBS 2、PHF 10和C6 orf 70（ERMARD），这些区域可能是导致脑结构异常的候选区域。我们的研究重申了6 q27区域在大脑正常发育中的重要性，并有助于确定可能导致大脑结构异常的基因。
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.