2.New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases.
Mi CAO ; Chao LIU ; Zihan WEI ; Xiaozhi QIAO ; Yanchun DENG
Chinese Journal of Medical Genetics 2021;38(7):626-630
OBJECTIVE:
To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure.
METHODS:
The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants.
RESULTS:
In three female patients, head MRI showed nodular gray matter ectopic in the bilateral ventricle. WES identified the heterozygous c.2720del T(p.Leu907Argfs*39) variant of FLNA gene in case 1 and her mother (case 2), and heterozygous c.1387_1390del GTGC(p.Val463Profs*34) of FLNA gene in case 3. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC (p.Val463Profs*34) variants of FLNA gene were predicted to be pathogenic (PVS1+PM2+PP1) and likely pathogenic(PVS1+PM2), respectively.
CONCLUSION
The c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC(p.Val463Profs*34) variants of FLNA gene may be the genetic cause of the three patients.
Epilepsy/genetics*
;
Female
;
Filamins/genetics*
;
Heterozygote
;
Humans
;
Magnetic Resonance Imaging
;
Mutation
;
Periventricular Nodular Heterotopia/genetics*
;
Seizures
Result Analysis
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