title: MEF2C deletions and mutations versus duplications: a clinical comparison.
abstract: 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.
authors: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Francesca
authors: F
authors: Novara
authors: Ambra
authors: A
authors: Rizzo
authors: Gloria
authors: G
authors: Bedini
authors: Vita
authors: V
authors: Girgenti
authors: Silvia
authors: S
authors: Esposito
authors: Chiara
authors: C
authors: Pantaleoni
authors: Roberto
authors: R
authors: Ciccone
authors: Francesca L
authors: FL
authors: Sciacca
authors: Valentina
authors: V
authors: Achille
authors: Erika
authors: E
authors: Della Mina
authors: Simone
authors: S
authors: Gana
authors: Orsetta
authors: O
authors: Zuffardi
authors: Margherita
authors: M
authors: Estienne
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D064326:MEF2 Transcription Factors / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D060888:Real-Time Polymerase Chain Reaction
chemical_list: C107745:CETN3 protein, human; D002135:Calcium-Binding Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human