Autism, language delay and mental retardation in a patient with 7q11 duplication.
Autism, language delay and mental retardation in a patient with 7q11 duplication.
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DOI：
10.1136/bcr.05.2009.1911
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发表时间：
2009-01-01
期刊：
影响因子：
0.9
通讯作者：
Brice, A
中科院分区：
文献类型：
--
作者：
Depienne, C;Heron, D;Brice, A
在一部分自闭症患者中发现了染色体重排。涉及与行为障碍相关的基因座的重复构成了一个特别好的候选机制。Williams-Beuren关键区（WBCR）位于7q11.23，在Williams-Beuren微缺失综合征（WBS）中常缺失。然而，迄今为止仅报告了4例WBCR重复的患者。在这里，206例自闭症谱系障碍患者进行了筛选WBCR重复的定量微卫星分析和多重连接依赖性探针扩增。确定了1例男性患者的整个父源WBCR新发间质性重复。患者患有自闭症，严重的语言迟缓和智力低下，伴有轻度畸形。本报告关注的第一个自闭症患者和WBCR重复。这一观察结果表明，7q11.23重复可能涉及复杂的临床表型，从发育或语言延迟到精神发育迟滞和自闭症。
Chromosomal rearrangements are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date. Here, 206 patients with autism spectrum disorders were screened for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. One male patient with a de novo interstitial duplication of the entire WBCR of paternal origin was identified. The patient had autistic disorder, severe language delay and mental retardation, with mild dysmorphism. The present report concerns the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism.