Journal of Pediatric Epilepsy 2015; 04(01): 023-029
DOI: 10.1055/s-0035-1554788
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Epilepsy and Other Symptoms Associated with Chromosome 9q34.11 Microdeletion

Tomoyuki Akiyama
1   Department of Child Neurology, Okayama University Hospital, Okayama, Japan
,
Toshiyuki Yamamoto
2   Institute of Medical Genetics, Tokyo Women's Medical University
› Author Affiliations
Further Information

Publication History

09 September 2014

17 September 2014

Publication Date:
03 July 2015 (online)

Abstract

Early-onset epileptic encephalopathy (EOEE) is a devastating condition in early childhood that often results in severe and permanent cognitive and motor deficit. Advances in genetics have unveiled many genes involved in EOEE. STXBP1 and SPTAN1 genes, of interest, are mapped to the same chromosomal region 9q34.11. Microdeletions involving this 9q34.11 region can lead to variable clinical phenotypes depending on the range of, and the genes within, the deletion. In this region, STXBP1, SPTAN1, ENG, and TOR1A genes seem to be dosage-sensitive. LMX1B, which is mapped to 9q33.3 and is closely located to the above four genes, could be also involved in the deletion. Twenty cases with deletions involving 9q34.11, including our own case in this article, have been reported in the literature. STXBP1 seems to cause epilepsy, often EOEE, and intellectual disability. SPTAN1 appears to be linked with hypomyelination and hypoplasia of various brain regions, especially corpus callosum, intellectual disability, and abnormal muscle tones. ENG can present with vascular abnormalities including arteriovenous malformation of the lung, liver, and brain. TOR1A can lead to dystonia. LMX1B is responsible for nail and patella malformation. The other deleted genes may add other clinical features such as facial dysmorphism and anomalies of other multiple organs. Utilizing high-resolution microarray analysis to determine the exact range of deletion will help identify more patients in the future to understand various phenotype of 9q34.11 microdeletion.

 
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