1q21.1 Microduplication expression in adults
1q21.1 Microduplication expression in adults
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DOI：
10.1038/gim.2012.129
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发表时间：
2013-04-01
影响因子：
8.8
通讯作者：
Bassett, Anne S.
中科院分区：
文献类型：
--
作者：
Dolcetti, Alessia;Silversides, Candice K.;Bassett, Anne S.
目的：罕见的，经常性的染色体1q21.1重复与儿童发育迟缓，先天性异常和大头畸形有关。成人临床表现的数据将有助于通知geneticcounseling.Methods：22项研究报告107个人（59名儿童和48名成人）与1q21.1重复进行了系统评价。我们汇编了可用的表型数据，试图确定最高度相关的临床特征，并确定在成人中的表达。我们还报告了我们中心在精神分裂症和法洛四联症研究中新发现的7例成人病例。结果：确定5例为对照，32例为先证者的亲属，70例具有临床特征：自闭症谱系障碍（n = 15）、先天性心脏病（n = 12）、精神分裂症（n = 10）或其他主要是发育特征（n = 33）。与对照组相比，本中心的精神分裂症（P = 0.0155）和法洛四联症（P = 0.0040）队列中1q21.1重复显著富集。成人的临床数据很少;除了用于确定的特征外，最常见的特征包括大头畸形和可能的结缔组织起源异常（例如，例如，在一个实施例中，结论：需要进一步的数据来表征1q21.1重复的终生表达。然而，这些初步结果表明，预期护理应包括对精神分裂症等迟发性疾病的关注。遗传医学2013：15（4）：282-289
Purpose: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling.Methods: A systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplications was conducted. We compiled the available phenotypic data to attempt to identify the most highly associated clinical features and to determine expression in adults. We also report on seven adult cases newly identified in the studies of schizophrenia and tetralogy of Fallot at our center.Results: Five cases were ascertained as controls, 32 as relatives of probands, and 70 as having clinical features: autism spectrum disorder (n = 15), congenital heart disease (n = 12), schizophrenia (n = 10), or other, mostly developmental, features (n = 33). The 1q21.1 duplication was significantly enriched in the cohorts with schizophrenia (P = 0.0155) and tetralogy of Fallot (P = 0.0040) at our center as compared with controls. There was a paucity of clinical data for adults; the most common features, other than those used for ascertainment, included macrocephaly and abnormalities of possible connective tissue origin (e. g., carpal tunnel syndrome).Conclusion: Further data are needed to characterize lifetime expression of 1q21.1 duplications. These initial results, however, suggest that anticipatory care should include attention to later-onset conditions such as schizophrenia. Genet Med 2013:15(4):282-289