Dingwen Wu1, *, Xinzhen Yin2, Shuang Wang2, Linglin Yang3
1Department of Genetics and Metabolism, The Children’s Hospital, Zhejiang University School of Medicine; National Clinical Research Center for Child Health, Hangzhou, PR China - 2Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, PR China - 3Department of Psychiatry, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, PR China
Objective: Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development. Classically, ectopic nodules are bilateral and symmetric, lining the ventricles defining bilateral periventricular nodular heterotopia (BPNH). X-linked dominant BPNH is related to mutations in the FLNA gene. A limited number of Chinese patients have been reported.
Method: A Chinese family with BPNH was enrolled. Given the patients’ clinical histories, the FLNA gene was analysed for the family.
Result: A novel heterozygous splicing variant IVS38-1G>C was detected in both the proband and her mother. The variant was confirmed to complete the retention of intron 38, resulting in loss-of-function Filamin A.
Conclusions: We described a Chinese BPNH case with a novel heterozygous splicing variant IVS38-1G>C. Our study provides some insights into Chinese BPNH patients.
Bilateral periventricular nodular heterotopia, FLNA, novel variant, mutation spectrum.