期刊
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
卷 97, 期 -, 页码 20-22出版社
W B SAUNDERS CO LTD
DOI: 10.1016/j.seizure.2022.03.001
关键词
KDM5B; SCN1A; Nav channels; Epilepsy; Epilepsy of infancy with migrating focal; seizures; Chromatin regulators; Global developmental delay; Gene de novo variants
The histone demethylase family is important in neurodevelopmental disorders. This study reports a patient with two new mutations associated with dysmorphisms, intellectual and motor disorders, and epilepsy.
The histone demethylase family plays a key role in chromatin structure and gene regulation during development. Mutations in the genes encoding the lysine demethylase 5 (KDM5) were reported in individuals with many diseases, including neurodevelopmental disorders such as intellectual disability. Recently, KDM5B has been identified as a gene regulator causative of recessive neurodevelopmental disorders. Although numerous variants in this gene have been identified, genotype / phenotype correlation remains variable. We report a patient with two de novo mutations, a frameshift KDM5B variant and a 2q deletion of 8.2 Mb, associated with a phenotype including facial and finger dysmorphisms, severe intellectual and motor disorders, and a rare epileptic syndrome identified as epilepsy of infancy with migrating focal seizures. Comparison with previous reports suggests that the KDM5B variant could play a potential role on dysmorphic features; conversely, the epileptic disorder is mainly caused by the haploinsufficiency of the Nav1 mediated gabaergic inhibition.
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