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

TY - JOUR

T1 - Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

AU - Boyle, Martine Isabel

AU - Jespersgaard, Cathrine

AU - Nazaryan, Lusine

AU - Ravn, Kirstine

AU - Brøndum-Nielsen, Karen

AU - Bisgaard, Anne-Marie

AU - Tümer, Zeynep

N1 - Copyright © 2015 Elsevier B.V. All rights reserved.

PY - 2015/11/1

Y1 - 2015/11/1

N2 - 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.

AB - 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.

KW - Adaptor Proteins, Signal Transducing

KW - Cell Cycle Proteins

KW - Child, Preschool

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 11

KW - Craniofacial Abnormalities

KW - De Lange Syndrome

KW - Diagnosis, Differential

KW - Gene Deletion

KW - Humans

KW - Intellectual Disability

KW - Male

KW - Membrane Proteins

KW - Nerve Tissue Proteins

KW - Protein Phosphatase 2

KW - Young Adult

U2 - 10.1016/j.gene.2015.07.016

DO - 10.1016/j.gene.2015.07.016

M3 - Journal article

C2 - 26164757

SN - 0378-1119

VL - 572

SP - 130

EP - 134

JO - Gene

JF - Gene

IS - 1

ER -