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
VL - 572
SP - 130
EP - 134
JO - Gene
JF - Gene
SN - 0378-1119
IS - 1
ER -