Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22
Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22
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DOI：
10.1002/ajmg.a.30066
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发表时间：
2004-09-15
影响因子：
2
通讯作者：
Ward, DC
中科院分区：
文献类型：
--
作者：
Cuker, A;State, MW;Ward, DC
抽动秽语综合征（GTS）、强迫症（OCD）和慢性领带障碍（CTD）是慢性的、潜在的使人衰弱的神经精神疾病，通常在家庭中聚集。共同的数据和家庭和连锁研究支持的假设，这些表型，在某些情况下，共享一个共同的病因。与此表型谱相关的染色体异常的研究进一步表明，GTS，OCD和CTD可能代表共同遗传条件的替代表现。我们报告一个14岁的女孩严重强迫症和t（2;18）（p12;q22）易位。患者的染色体18断裂点定位于与先前报道的与GTS、OCD和CTD相关的两个重排相同的染色体带，并且精细映射到距这些重排约5 Mb的基因组位置。这三个断点在一个相对较小的遗传区间内的聚类表明，18 q22是一个有希望的区域，包含一个或多个在GTS/OCD/CTD表型谱的发展中具有重要病因学意义的基因。(C)2004 Wiley-Liss，Inc.
Gilles de la Tourette syndrome (GTS), obsessive compulsive disorder (OCD), and chronic tie disorder (CTD) are chronic, potentially debilitating neuropsychiatric disorders that often cluster in families. Comorbidity data and family and linkage studies support the hypothesis that these phenotypes, in some cases, share a common etiology. Studies of chromosomal abnormalities associated with this phenotypic spectrum further show that GTS, OCD, and CTD may represent alternate manifestations of a shared genetic condition. We report on a 14-year-old girl with severe OCD and a t(2;18)(p12;q22) translocation. The patient's chromosome 18 breakpoint localizes to the same chromosomal band as two previously reported rearrangements associated with GTS, OCD, and CTD, and fine maps to a genomic position approximately 5 Mb from these rearrangements. The clustering of these three breakpoints within a relatively small genetic interval suggests that 18q22 is a promising region for containing a gene or genes of etiologic importance in the development of the GTS/OCD/CTD phenotypic spectrum. (C) 2004 Wiley-Liss, Inc.