Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.
Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.
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DOI：
10.1186/s13229-017-0171-7
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发表时间：
2017
期刊：
影响因子：
6.2
通讯作者：
Schultz RT
中科院分区：
文献类型：
--
作者：
Clements CC;Wenger TL;Zoltowski AR;Bertollo JR;Miller JS;de Marchena AB;Mitteer LM;Carey JC;Yerys BE;Zackai EH;Emanuel BS;McDonald-McGinn DM;Schultz RT
先前的研究报告称，对于 22q11.2 缺失或重复的儿童，没有明确的医学合并症关键区域。本研究的目的是评估 22q11.2 LCR-A 至 B 区域存在小嵌套缺失或重复的个体，与不包含该区域的缺失或重复的个体相比，是否表现出较高的自闭症谱系障碍 (ASD) 发病率。我们招募了 46 名 22q11.2 嵌套缺失 (n = 33) 或重复 (n = 13) 的患者，包括 LCR-A 至 B (n del = 11)、LCR-A 至 C (n del = 4)、LCR-B 至 D (n del = 14; n dup = 8)、LCR-C 至 D (n del = 4; n) dup = 2)，以及更小的嵌套区域 (n = 3)。自闭症谱系障碍 (ASD) 诊断分类采用家长问卷调查、记录审查以及部分人员的现场评估。将涉及 LCR-B 至 LCR-D 的个体的 ASD 发生率与 Fisher 精确检验 LCR-A 至 LCR-B 的缺失进行比较，并与之前发布的 LCR-A 至 LCR-D 的重复样本进行比较。医疗合并症和精神疾病诊断的发生率是通过问卷调查和图表审查确定的。我们还报告了精神病学问卷的群体平均差异。涉及 LCR-A 至 B 的缺失的个体显示出 39-44% 的 ASD 发生率，而不涉及 LCR-A 至 B 的缺失的个体则为 0%。我们观察到，在涉及 LCR-A 至 B 和 LCR-B 至 D 的重复和缺失的个体中，医疗合并症的发生率相似，这与之前的研究一致。如果该区域包括 LCR-A 至 LCR-B，22q11.2 嵌套缺失的儿童可能面临更大的自闭症谱系障碍风险。需要复制。本文的在线版本 (10.1186/s13229-017-0171-7) 包含补充材料，可供授权用户使用。
Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (n del = 11), LCR-A to C (n del = 4), LCR-B to D (n del = 14; n dup = 8), LCR-C to D (n del = 4; n dup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher’s exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Individuals with deletions involving LCR-A to B showed a 39–44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. The online version of this article (10.1186/s13229-017-0171-7) contains supplementary material, which is available to authorized users.
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影响因子：
3.9
作者：
Guo, Tingwei;McDonald-McGinn, Donna;Blonska, Anna;Shanske, Alan;Bassett, Anne S.;Chow, Eva;Bowser, Mark;Sheridan, Molly;Beemer, Frits;Devriendt, Koen;Swillen, Ann;Breckpot, Jeroen;Digilio, Maria C.;Marino, Bruno;Dallapiccola, Bruno;Carpenter, Courtney;Zheng, Xin;Johnson, Jacob;Chung, Jonathan;Higgins, Anne Marie;Philip, Nicole;Simon, Tony J.;Coleman, Karlene;Heine-Suner, Damian;Rosell, Jordi;Kates, Wendy;Devoto, Marcella;Goldmuntz, Elizabeth;Zackai, Elaine;Wang, Tao;Shprintzen, Robert;Emanuel, Beverly;Morrow, Bernice
通讯作者：
Morrow, Bernice
影响因子：
11
作者：
Jacquet, H;Demily, C;Campion, D
通讯作者：
Campion, D
影响因子：
120.7
作者：
Christensen, Jakob;Gronborg, Therese Koops;Vestergaard, Mogens
通讯作者：
Vestergaard, Mogens
影响因子：
25.8
作者：
Hoeffding, Louise K.;Trabjerg, Betina B.;Werge, Thomas
通讯作者：
Werge, Thomas
影响因子：
10.6
作者：
Baker, K;Baldeweg, T;Skuse, D
通讯作者：
Skuse, D