Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
复制标题
发育迟缓和智力障碍合并症的染色体微阵列分析。
DOI：
10.1186/s12920-018-0368-4
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发表时间：
2018-05-24
影响因子：
2.7
通讯作者：
Yu Y
中科院分区：
文献类型：
--
作者：
Fan Y;Wu Y;Wang L;Wang Y;Gong Z;Qiu W;Wang J;Zhang H;Ji X;Ye J;Han L;Jin X;Shen Y;Li F;Xiao B;Liang L;Zhang X;Liu X;Gu X;Yu Y
背景发育迟缓(DD)和智力残疾(ID)经常与广泛的其他表型相关。一般认为，染色体微阵列分析(CMA)是诊断DD/ID的首选方法，但不同共病条件下的DD/ID患者的诊断结果存在显著差异。方法为了研究基因-表型相关性，我们检测了已发现的致病拷贝数变异(PCNV)的特征，并比较了不同共存条件患者亚组间的诊断效率。结果本研究回顾了710例中国DD/ID混合队列患者的CMA结果。201例患者(28%)共检出247个pCNV。这些pCNV中有很大一部分是拷贝数丢失，并且拷贝数丢失的大小通常小于获得的大小。同时发生先天性心脏病(55%)、面部畸形(39%)、小头畸形(34%)或低眼压(35%)的亚组的诊断效率显著较高，而骨骼畸形(26%)、脑畸形(24%)或癫痫(24%)的共同发生情况不会改变诊断效率。结论不同表型表现的DD/ID患者存在不同的诊断产率。在规划CMA时，共存情况的存在可能是需要考虑的因素之一。
BackgroundDevelopmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions.MethodsTo investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions.ResultsThis study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity.ConclusionVaried yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.
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影响因子：
4.5
作者：
Zahnleiter D;Uebe S;Ekici AB;Hoyer J;Wiesener A;Wieczorek D;Kunstmann E;Reis A;Doerr HG;Rauch A;Thiel CT
通讯作者：
Thiel CT
影响因子：
9.9
作者：
Michelson, D. J.;Shevell, M. I.;Ashwal, S.
通讯作者：
Ashwal, S.
影响因子：
8
作者：
Moeschler, John B.;Shevell, Michael
通讯作者：
Shevell, Michael
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
影响因子：
30.8
作者：
Cooper, Gregory M.;Coe, Bradley P.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.