A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report
- PDF / 982,204 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 81 Downloads / 199 Views
CASE REPORT
Open Access
A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report Mina Wang1,2, Bin Li1, Zehuan Liao3,4, Yu Jia5 and Yuanbo Fu1*
Abstract Background: The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3. Case presentation: The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied with intellectual disability, developmental delay and minor dysmorphic features. The electroencephalogram disclosed slow waves in bilateral temporal, together with generalized spike-and-slow waves, multiple-spike-and-slow waves and slow waves in bilateral occipitotemporal regions. The exome sequencing showed no pathogenic genetic variation in the patient’s DNA sample. While the single nucleotide polymorphism (SNP) array analysis revealed a de novo microdeletion spanning 2.324 Mb, within the cytogenetic band 13q12.3. Conclusions: The epilepsy may be associated with the mutation of KATNAL1 gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion. Keywords: Epilepsy, 13q12.3, Microdeletion, Case report
Background Epilepsy refers to a chronic neurologic disorder, and it leads to impairments of cognitive and behavioral function. Although the mechanism of epilepsy is still unclear, it is believed that genetic cause is strongly associated with epilepsy of infancy and childhood. Moreover, the genetic cause of epilepsy was initially demonstrated in 2001, with a finding that all seven children in a study of Dravet syndrome had a de novo SCN1A mutation. With the development of molecular techniques, more discoveries between genetics and epilepsy have been revealed [1–3]. Besides, chromosome 13 owns one of the lowest gene densities among human chromosomes and structural and functional variations of it may lead
* Correspondence: [email protected] 1 The Department of Acupuncture and Moxibustion, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing Key Laboratory of Acupuncture Neuromodulation, Beijing 100010, China Full list of author information is available at the end of the article
to 13q-syndrome, but interstitial deletion of 13q12.3 has only rarely been reported [4]. M. Drummond-Borg et al. [5] have reported a complex chromosome rearrangement involving chromosome 2,13, and 20 in the normal mother of a girl with mild clinical features, developmental delay and an interstitial deletion of 13q12.1-q14.1. Also, another 14 cases of de novo 13q partial deletions (seven terminal and seven interstitial) ranging from 4.2 to 75.7 Mb showed varying degrees of intellectual disability and specific clinical features, among them, 8 had central nervous system anomalies, 6 had eyes abnormalities, 9 had facial dysmorphisms and 10 had hand or feet anomalies [6]. Der Kaloustian et al. [7] have revealed a patient with an interstitial deletion of 2.1
Data Loading...
