Boyle Martine Isabel, Jespersgaard Cathrine, Nazaryan Lusine, Ravn Kirstine, Brøndum-Nielsen Karen, Bisgaard Anne-Marie, Tümer Zeynep
Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.
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 1.6Mb 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.
11q12.3 - 11q13.1区域内的缺失非常罕见，迄今为止，文献中仅描述了两例。在本研究中，我们描述了一名23岁男性患者，他有智力残疾、行为问题、畸形特征、吞咽困难、胃食管反流和骨骼异常。尽管他缺乏一些该疾病的典型特征，但在儿童时期曾考虑将科妮莉亚·德朗格综合征（CdLS，OMIM #122470；#300590；#610759；#300882；#614701）作为鉴别诊断。他在五个已知的CdLS基因（NIPBL、SMC1A、SMC3、HDAC8、RAD21）中均未发生突变，但通过染色体微阵列检测到染色体区域11q12.3 - 11q13.1存在一个1.6Mb的缺失。该缺失包含多个基因，包括与智力残疾和过度生长相关的PPP2R5B；与智力残疾和自闭症谱系障碍相关的NRXN2；以及与所有五个已知CdLS基因一样属于黏连蛋白途径一部分的CDCA5。因此，CDCA5的缺失可能是导致本病例出现一些类似CdLS特征的原因。
