Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
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DOI：
10.1016/j.gene.2015.07.016
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发表时间：
2015-11-01
期刊：
影响因子：
3.5
通讯作者：
Tumer, Zeynep
中科院分区：
文献类型：
--
作者：
Boyle, Martine Isabel;Jespersgaard, Cathrine;Tumer, Zeynep
11q12.3-11q13.1之间的缺失非常罕见，迄今为止文献中仅描述了两例。在这项研究中，我们描述了一个23岁的男性患者智力残疾，行为问题，畸形的功能，吞咽困难，胃食管反流和骨骼异常。科尔内利亚德兰格综合征（CdLS，OMIM #122470; #300590; #610759; #300882; #614701）被认为是儿童期的鉴别诊断，尽管他缺乏这种疾病的一些典型特征。该患者在5个已知的CdLS基因（NIPBL、SMC 1A、SMC 3、HDAC 8、RAD 21）中均未发现突变，但在染色体11q12.3-11q13.1区域检测到1.6Mb的缺失。该缺失包含几个基因，包括PPP 2 R5 B，其与智力残疾和过度生长有关; NRXN 2，其与智力残疾和自闭症谱系障碍有关;和CDCA 5，其是粘着蛋白途径的一部分，以及所有五个已知的CdLS基因。因此，CDCA 5的缺失可能解释了本病例的一些CdLS样特征。(C)2015 Elsevier B. V.版权所有。
Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6 Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. (C) 2015 Elsevier B.V. All rights reserved.