title: Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.
abstract: The 5q14.3 deletion syndrome is a heterogeneous disorder with remarkable phenotypic diversity ranging from severe to mild manifestation. In this paper, we report on a patient with 5q14.3 q21.3 deletion who exhibited the severe phenotype and died at 5.5 months. This patient can be classified as having sudden unexplained death in epilepsy (SUDEP) [Tomson et al., 2008]. The deleted region (21.02 Mb, Chr.5: 88, 047, 621-109,072,596 × 1 dn), which included MEF2C and EFNA5, was a 16.5 Mb sequence that overlapped with previously reported deletions in a patient with the mild phenotype. This study further demonstrated the complexity of clinical cytogenetic correlation of the 5q14.3 deletion.
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Yong-jia
authors.initials: YJ
authors.lastname: Yang
authors.forename: Xu
authors.initials: X
authors.lastname: Yao
authors.forename: Jihong
authors.initials: J
authors.lastname: Guo
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
authors.forename: Xin-yu
authors.initials: XY
authors.lastname: He
authors.forename: Liu
authors.initials: L
authors.lastname: Zhao
authors.forename: Ming
authors.initials: M
authors.lastname: Tu
authors.forename: Yi-min
authors.initials: YM
authors.lastname: Zhu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007223:Infant
keywords: 5q14.3 deletion; MEF2C; epilepsy; sudden unexpected death in epilepsy