title: Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less.
abstract: An 18-year-old female with mild mental disability (global IQ 69), febrile seizures with subsequent myoclonic/grand mal epilepsy, and subtle morphologic changes is described with del 5(q14.3q21.3) by karyotype and minimal DNA deletion of 21.08 Mb by array comparative genomic hybridization microarray analysis (arr chr5:83,592,798-104,671,993 X1) that encompasses at least 50 genes. Included in the deletion interval is the MEF2C gene that usually causes severe mental disability when haploinsufficient, illustrating the complexity of clinic-cytogenetic correlation even with defined segmental aneuploidy. Interaction of MEF2C with the deleted febrile seizure (FEB4) and juveline myoclonic epilepsy (EJM4) loci plus the G-protein receptor (GPR98/MASS1/Usher syndrome) gene may moderate the phenotype, perhaps through common regulation by calcium.
authors.affiliation: Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, USA.
authors.forename: Vijay
authors.initials: V
authors.lastname: Tonk
authors.forename: Jee Hong
authors.initials: JH
authors.lastname: Kyhm
authors.forename: Caro E
authors.initials: CE
authors.lastname: Gibson
authors.forename: Golder N
authors.initials: GN
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000473:pathology; D005260:Female; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D026161:MADS Domain Proteins / Q000235:genetics* / Q000378:metabolism; D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D043562:Receptors, G-Protein-Coupled / Q000378:metabolism; D003294:Seizures, Febrile / Q000473:pathology
chemical_list: C417525:ADGRV1 protein, human; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D018006:Myogenic Regulatory Factors; D043562:Receptors, G-Protein-Coupled