To editor:Okur-Chung neurodevelopmental syndrome(OCNDS)is a rare autosomal dominant disorder caused by heterozygous mutations in the CSNK2A1 gene.This multisystemic disease is primarily characterized by neurodevelopme...To editor:Okur-Chung neurodevelopmental syndrome(OCNDS)is a rare autosomal dominant disorder caused by heterozygous mutations in the CSNK2A1 gene.This multisystemic disease is primarily characterized by neurodevelopmental delay and facial dysmorphism.Brain magnetic resonance imaging(MRI)of affected patients typically reveals gyral simplification,cerebral atrophy,thinning of the corpus callosum,and cerebellar hypoplasia.To date,approximately 30 cases of OCNDS have been reported in the literature,all diagnosed postnatally.Recently,whole exome sequencing(WES)identified five pathogenic variants in the KCNQ5 gene in patients with developmental and epileptic encephalopathy.1 The KCNQ5 gene,located on chromosome 6q13,regulates neuronal excitability and function by modulating synaptic inhibition.2 Patient’s consent to publish the clinical information in the article was obtained.展开更多
文摘To editor:Okur-Chung neurodevelopmental syndrome(OCNDS)is a rare autosomal dominant disorder caused by heterozygous mutations in the CSNK2A1 gene.This multisystemic disease is primarily characterized by neurodevelopmental delay and facial dysmorphism.Brain magnetic resonance imaging(MRI)of affected patients typically reveals gyral simplification,cerebral atrophy,thinning of the corpus callosum,and cerebellar hypoplasia.To date,approximately 30 cases of OCNDS have been reported in the literature,all diagnosed postnatally.Recently,whole exome sequencing(WES)identified five pathogenic variants in the KCNQ5 gene in patients with developmental and epileptic encephalopathy.1 The KCNQ5 gene,located on chromosome 6q13,regulates neuronal excitability and function by modulating synaptic inhibition.2 Patient’s consent to publish the clinical information in the article was obtained.
