TY - JOUR
T1 - MEF2C deletions and mutations versus duplications
T2 - A clinical comparison
AU - Novara, Francesca
AU - Rizzo, Ambra
AU - Bedini, Gloria
AU - Girgenti, Vita
AU - Esposito, Silvia
AU - Pantaleoni, Chiara
AU - Ciccone, Roberto
AU - Sciacca, Francesca L.
AU - Achille, Valentina
AU - Della Mina, Erika
AU - Gana, Simone
AU - Zuffardi, Orsetta
AU - Estienne, Margherita
PY - 2013
Y1 - 2013
N2 - 5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic small mouth resulting in cupid bow/tented upper lip. MEF2C mutations have been also identified in patients with overlapping phenotype so that it is considered the gene responsible for the 5q14.3 deletion syndrome. To date, one single duplication including MEF2C has been reported in a patient with intellectual disability but its clinical significance remains uncertain also because of the large size of the imbalance. Here we present two further patients with 5q14.3 duplications including MEF2C. Their phenotype indeed suggest the pathogenic effect of the MEF2C duplication although other duplicated genes also brain expressed might contribute to the clinical features. In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented.
AB - 5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic small mouth resulting in cupid bow/tented upper lip. MEF2C mutations have been also identified in patients with overlapping phenotype so that it is considered the gene responsible for the 5q14.3 deletion syndrome. To date, one single duplication including MEF2C has been reported in a patient with intellectual disability but its clinical significance remains uncertain also because of the large size of the imbalance. Here we present two further patients with 5q14.3 duplications including MEF2C. Their phenotype indeed suggest the pathogenic effect of the MEF2C duplication although other duplicated genes also brain expressed might contribute to the clinical features. In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented.
KW - 5q14.3 microduplication syndrome
KW - Array-CGH
KW - MEF2C
UR - http://www.scopus.com/inward/record.url?scp=84878656226&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84878656226&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2013.01.011
DO - 10.1016/j.ejmg.2013.01.011
M3 - Article
C2 - 23402836
AN - SCOPUS:84878656226
VL - 56
SP - 260
EP - 265
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 5
ER -