Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
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DOI：
10.1038/ejhg.2008.220
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发表时间：
2009-05-01
影响因子：
5.2
通讯作者：
Cheung, Sau Wai
中科院分区：
文献类型：
--
作者：
Nagamani, Sandesh Chakravarthy Sreenath;Erez, Ayelet;Cheung, Sau Wai
6 q的间质性缺失是罕见的。我们报告了4例6 q25间质缺失患者的详细临床和分子特征。我们所有的病人都有小头畸形，发育迟缓，畸形特征和听力损失，而其中两个有胼胝体发育不全。我们使用高密度阵列比较基因组杂交（a-CGH）确定了缺失的大小、程度和基因组内容，发现在所有四种情况下，6q25.2-q25.3区域内跨越3.52 Mb的共同片段缺失。我们假设，在常见的缺失区域的基因的子集是剂量敏感的，这些基因的单倍性损害大脑和听力的正常发育。
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.