Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Background: Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.

Methods: We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.

The associational effects of host plant and mistletoe functional traits on leaf herbivory in mistletoe.

Associational effects are a phenomenon in which herbivore damage on co-occurring plant species is influenced by neighboring plants. Mistletoes are a group of shrubs that obtain nutrients from host plants through haustoria. Despite the potential for mistletoe herbivory to be affected by associational effects with their hosts, the effects of host and mistletoe functional traits on mistletoe herbivory have been largely overlooked.

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).

Developmental epileptic encephalopathy-47 (DEE47) is a nervous system disease characterized by the onset of intractable seizures that appear the first days or weeks after birth. FGF12 is the disease-causing gene of DEE47 that encodes a small cytoplasm protein, which is a member of the fibroblast growth factor homologous factor (FGF) family. The FGF12-encoded protein interacts with the cytoplasmic tail of voltage-gated sodium channels to enhance the voltage dependence of rapid inactivation of sodium channels in neurons.