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. RESULTS: Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as gnomAD and the Exome Aggregation Consortium. CONCLUSIONS: The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.

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. This study aimed to evaluate the associational effects of host plants and the direct effects of mistletoe functional traits on mistletoe herbivory. To achieve this, we measured leaf herbivory and leaf traits of three mistletoe species (Dendrophthoe pentandra, Scurrula chingii var. yunnanensis, and Helixanthera parasitica) and their associated 11 host species during both dry and wet seasons. Our results showed that leaf herbivory of D. pentandra and S. chingii var. yunnanensis differed significantly on their respective host species, but H. parasitica did not. The relationships between mistletoe and the paired host herbivory differed between seasons, with a stronger positive relationship observed during the dry season. Furthermore, significant relationships were observed between paired leaf carbon, leaf nitrogen, and condensed tannin in mistletoes and their host plants, indicating that host plants can affect mistletoes' leaf functional traits. A group of mistletoe leaf traits provided significant predictions for leaf herbivory: leaves with higher leaf thickness and leaf total nitrogen showed higher herbivory. Overall, our study reveals that mistletoe leaf herbivory is directly affected by its leaf traits and indirectly affected by host associational effects, primarily through changes in mistletoes' leaf traits.

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. This study used non-insertion Sendai virus transfection to establish the induced pluripotent stem cells(iPSCs)line with FGF12 mutation. The cell line was obtained from a 3-year-old boy carrying the c.334G > A heterozygous mutation in the FGF12 gene. This iPSC line could facilitate the investigations of pathogeneses of complex nervous system diseases such as developmental epileptic encephalopathy.