CLINICAL REPORT
Interstitial Deletion 5q14.3q21.3 Associated with Lethal Epilepsy Yong-jia Yang,1 Xu Yao,1 Jihong Guo,2 Rui Zhao,1 Xin-yu He,1 Liu Zhao,1 Ming Tu,1 and Yi-min Zhu1,3* 1
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 2 State Key Laboratory of Medical Genetics, Central South University, Changsha, China 3
Department of Emergency, Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha, China
Manuscript Received: 12 May 2014; Manuscript Accepted: 5 December 2014
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. Ó 2015 Wiley Periodicals, Inc.
Key words: 5q14.3 deletion; MEF2C; sudden unexpected death in epilepsy; epilepsy
INTRODUCTION The 5q14.3 deletion syndrome includes epilepsy and remarkable phenotypic diversity ranging from severe cognitive disability with brain anomalies [Cardoso et al., 2009; Le Meur et al., 2010] to mild disability and normal facial appearance [Tonk et al., 2011]. This variable expression has been related to the presence [Le Meur et al., 2010] or absence [Shimojima et al., 2012] of the MEF2C gene with the deletion interval versus complex multigenic environmental interactions that result in chromosomal phenotypes [Tonk et al., 2011; Wilson, 2013]. We describe a patient with a 21.02 Mb deletion in the 5q14.3q21.3 band region (88,047,621–109,072,596) that overlapped with deletions in prior reports, transected the 50 region of the MEF2C gene, and resulted in death at 5 months of age.
CLINICAL REPORT The male patient was the first child born to healthy, nonconsanguineous parents, with father’s age of 31 and mother’s age of 26, after a spontaneous, uncomplicated delivery with Apgar scores of 8 and 9. The birth weight was 2,550 g (25th–50th centile), the length was 45 cm (
Interstitial Deletion 5q14.3q21.3 Associated with Lethal Epilepsy Yong-jia Yang,1 Xu Yao,1 Jihong Guo,2 Rui Zhao,1 Xin-yu He,1 Liu Zhao,1 Ming Tu,1 and Yi-min Zhu1,3* 1
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 2 State Key Laboratory of Medical Genetics, Central South University, Changsha, China 3
Department of Emergency, Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha, China
Manuscript Received: 12 May 2014; Manuscript Accepted: 5 December 2014
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. Ó 2015 Wiley Periodicals, Inc.
Key words: 5q14.3 deletion; MEF2C; sudden unexpected death in epilepsy; epilepsy
INTRODUCTION The 5q14.3 deletion syndrome includes epilepsy and remarkable phenotypic diversity ranging from severe cognitive disability with brain anomalies [Cardoso et al., 2009; Le Meur et al., 2010] to mild disability and normal facial appearance [Tonk et al., 2011]. This variable expression has been related to the presence [Le Meur et al., 2010] or absence [Shimojima et al., 2012] of the MEF2C gene with the deletion interval versus complex multigenic environmental interactions that result in chromosomal phenotypes [Tonk et al., 2011; Wilson, 2013]. We describe a patient with a 21.02 Mb deletion in the 5q14.3q21.3 band region (88,047,621–109,072,596) that overlapped with deletions in prior reports, transected the 50 region of the MEF2C gene, and resulted in death at 5 months of age.
CLINICAL REPORT The male patient was the first child born to healthy, nonconsanguineous parents, with father’s age of 31 and mother’s age of 26, after a spontaneous, uncomplicated delivery with Apgar scores of 8 and 9. The birth weight was 2,550 g (25th–50th centile), the length was 45 cm (
