Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 4; pp. 866 - 871
• Main Authors: Yang, Yong-jia, Yao, Xu, Guo, Jihong, Zhao, Rui, He, Xin-yu, Zhao, Liu, Tu, Ming, Zhu, Yi-min
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.04.2015; Wiley Subscription Services, Inc
• Subjects: 5q14.3 deletion; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; epilepsy; Epilepsy - diagnosis; Epilepsy - genetics; Fatal Outcome; Humans; Infant; MEF2C; sudden unexpected death in epilepsy; epilepsy; MEF2C; 5q14.3 deletion; sudden unexpected death in epilepsy
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36991

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. © 2015 Wiley Periodicals, Inc.