期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 6, 页码 1437-1441出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34012
关键词
clinic-cytogenetic correlation; array comparative genomic hybridization; deletion 5q14.3q21.3; epilepsy; MEF2C gene; FEB4 locus; GPR98 gene; Usher syndrome
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 21.08Mb 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. (C) 2011 Wiley-Liss, Inc.
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