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Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less
Author(s) -
Tonk Vijay,
Kyhm Jee Hong,
Gibson Caro E.,
Wilson Golder N.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34012
Subject(s) - haploinsufficiency , epilepsy , genetics , mef2c , comparative genomic hybridization , myoclonic epilepsy , biology , phenotype , gene , medicine , bioinformatics , chromosome , neuroscience , gene expression
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. © 2011 Wiley‐Liss, Inc.