22q11 deletion syndrome: A genetic subtype of schizophrenia
22q11 deletion syndrome: A genetic subtype of schizophrenia
复制标题
DOI：
10.1016/s0006-3223(99)00114-6
复制
发表时间：
1999-10-01
影响因子：
10.6
通讯作者：
Chow, EWC
中科院分区：
文献类型：
--
作者：
Bassett, AS;Chow, EWC
精神分裂症可能是由多种易感基因引起的，并且可能具有与易感基因和/或非遗传原因相互作用的环境因素。最近的证据支持 22q11 缺失综合征 (22qDS) 代表精神分裂症的一种可识别遗传亚型的可能性。 22qDS 是一种未被充分认识的遗传综合征，与 22 号染色体上的微缺失和可变表达相关，通常包括轻度先天性畸形特征、言语过鼻音和学习困难。初步证据表明，少数精神分裂症患者（大约 2%）可能患有 22qDS，并且在发育迟缓的亚人群中患病率可能较高。本文提出了临床标准（包括面部特征、学习障碍、鼻音过多、先天性心脏缺陷和其他先天性异常），以帮助识别可能患有这种亚型的精神分裂症患者，并概述了可能增加对该综合征怀疑指数的特征。尽管在缺失区域中尚未鉴定出特定的致病基因，但 22qDS 可能代表精神分裂症的更同质亚型。这种亚型可以作为精神分裂症神经发育起源的模型，有助于描述病因和发病机制。生物精神病学 1999；46：882-891 (C) 1999 生物精神病学协会。
Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an underrecognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (similar to 2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms. Biol Psychiatry 1999;46:882-891 (C) 1999 Society of Biological Psychiatry.