Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

作者：Boyle Martine Isabel; Jespersgaard Cathrine; Nazaryan Lusine; Ravn Kirstine; Brondum Nielsen Karen; Bisgaard Anne Marie; Tumer Zeynep^*

来源：Gene, 2015, 572(1): 130-134.

DOI：10.1016/j.gene.2015.07.016

• Cornelia de Lange syndrome
• 11q123-11q13.1
• CDCA5
• Intellectual disability
• NRXN2
• PPP2R5B

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.

• 出版日期2015-11-1