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.
METHODS: 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.
METHODS: 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.
摘要：
DEPDC5的变异已被证明不仅是各种显性家族性局灶性癫痫的主要原因，还有零星的局灶性癫痫.在本研究中,在局灶性癫痫患者及其健康父亲中检测到DEPDC5的新变异.我们旨在分析三个小家族中的致病性DEPDC5变体。
一名5个月大的男婴出现局灶性癫痫。全外显子组测序鉴定出一种新的杂合变体c.1696delC（p。Gln566fs)在DEPDC5中，通过Sanger测序证实。该变体遗传自健康的父亲。
我们的研究扩展了DEPDC5变体的范围。此外，我们讨论了DEPDC5的低外显率与DEPDC5相关的散发性局灶性癫痫的相对高发病率之间的关系。此外,由于家族间表型和遗传异质性，我们推测,在这样的小家庭中,具有可变病灶的家族性局灶性癫痫的患病率可能被低估.我们强调基因检测在病因不明的散发性癫痫患者中的重要性。以及他们的家庭成员。它可以识别致病突变，从而帮助临床医生做出明确的诊断。
一名5个月大的男婴出现局灶性癫痫。全外显子组测序鉴定出一种新的杂合变体c.1696delC（p。Gln566fs)在DEPDC5中，通过Sanger测序证实。该变体遗传自健康的父亲。
我们的研究扩展了DEPDC5变体的范围。此外，我们讨论了DEPDC5的低外显率与DEPDC5相关的散发性局灶性癫痫的相对高发病率之间的关系。此外,由于家族间表型和遗传异质性，我们推测,在这样的小家庭中,具有可变病灶的家族性局灶性癫痫的患病率可能被低估.我们强调基因检测在病因不明的散发性癫痫患者中的重要性。以及他们的家庭成员。它可以识别致病突变，从而帮助临床医生做出明确的诊断。
