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Case Reports
. 2022 Jul 30;22(1):459.
doi: 10.1186/s12887-022-03515-8.

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

Chunyu Gu #  1   2 , Xiaowei Lu #  1   3 , Jinhui Ma #  1   4 , Linjie Pu #  1   2 , Xiufang Zhi  1   2 , Jianbo Shu  1   5   6 , Dong Li  7   8 , Chunquan Cai  9   10   11   12
Affiliations
Case Reports

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

Chunyu Gu et al. BMC Pediatr. .

Abstract

Background: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze the pathogenic DEPDC5 variant in the small family of three.

Case presentation: A 5-month-old male infant presented with focal epilepsy. Whole exome sequencing identified a novel heterozygous variant c.1696delC (p.Gln566fs) in DEPDC5, confirmed by Sanger sequencing. The variant was inherited from healthy father.

Conclusions: Our study expands the spectrum of DEPDC5 variants. Moreover, We discuss the relation between the low penetrance of DEPDC5 and the relatively high morbidity rate of DEPDC5-related sporadic focal epilepsy. Besides, due to interfamilial phenotypic and genetic heterogeneity, we speculate the prevalence of familial focal epilepsy with variable foci might be underestimated in such small families. We emphasize the importance of gene detection in patients with sporadic epilepsy of unknown etiology, as well as their family members. It can identify causative mutations, thus providing help to clinicians in making a definitive diagnosis.

Keywords: Case report; DEPDC5; FFEVF; Focal epilepsy; Whole exome sequencing.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
The abnormal EEG picture of proband. Epileptiform discharges with sharp wave (marked with a red circle) over the right frontal area were revealed. The amplitude was 93.8 μV and the timing was 82 ms
Fig. 2
Fig. 2
Sanger sequencing confirmed the DEPDC5 (c. 1696delC) variant. Both the proband and his father father carried the heterozygous variant. The nucleotide deletion was marked with a dark box in the reverse sequencing
Fig. 3
Fig. 3
Pedigree chart in this family. The father (I1) was healthy (marked as a dark dot in a blank background) even though he carried the heterozygous variant c.1696delC in DEPDC5. The proband (II1, pointed out by the arrow) inherited the variant from his father and developed the corresponding disease (marked as dark)
See this image and copyright information in PMC

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