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De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum
Author(s) -
Shimojima Keiko,
Okumura Akihisa,
Mori Harushi,
Abe Shinpei,
Ikeno Mitsuru,
Shimizu Toshiaki,
Yamamoto Toshiyuki
Publication year - 2012
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.35490
Subject(s) - mef2c , microcephaly , corpus callosum agenesis , microdeletion syndrome , mef2 , epilepsy , corpus callosum , genetics , bioinformatics , medicine , biology , gene , phenotype , neuroscience , enhancer , transcription factor
The 5q14.3 microdeletion syndrome has recently been recognized as a clinical entity manifesting as severe intellectual disability, epilepsy, and brain malformations. Analysis of the shortest region of overlap among patients with this syndrome and subsequent identification of nucleotide alterations in the coding region of myocyte enhancer factor 2C gene ( MEF2C ) have suggested MEF2C as the gene responsible for the 5q14.3 microdeletion syndrome. We identified a de novo 3.4‐Mb deletion of 5q14.3 in a patient with infantile spasms, microcephaly, and brain malformation. The deleted region in the present patient was positional toward the centromere, and MEF2C was not included in the deleted region. However the neurological and dysmorphic features of the present patient resembled those of patients with the 5q14.3 microdeletion syndrome. We consider that a positional effect is the likely explanation for this evidence. To study the precise mechanism of this positional effect, further information is required on patients showing atypical deletions neighboring MEF2C . © 2012 Wiley Periodicals, Inc.