Wen-Jun Bian's research while affiliated with Institute of Neuroscience and other places

... gdap.org.cn/statistic/phenotype). The pathogenic potential and pathogenic features of each gene are essential parts of the gene-disease association and fundamental bases for evaluating the pathogenicity of variants [54]. ...

... [1][2][3] Generally, the pathogenicity of sequence variants is evaluated at the variant level, as well as at the gene level, 1 and the assessment of gene-level implications is required before evaluating the pathogenicity of variants identi ed in an individual. [4][5][6] For evaluating the pathogenicity of sequence variants at the variant level, the American College of Medical Genetics and Genomics guideline (ACMG) is increasingly used. 2,3 ACMG was designed to determine whether a variant in a gene with a de nitive role in a genetic disorder may be pathogenic for that disorder, while pathogenicity determination is independent of interpreting the cause of disease in a given patient. 2 In practice, however, a critical question is whether the identi ed variant is responsible for the phenotype of the patient, i.e., the causality of the variants. ...

... On the other hand, genes differ in their genetic dependent quantity (GDQ), i.e., the low quantitative limit of genetic function required for normal life. 7,8 A variant is pathogenic when its damage impairs GDQ. Therefore, the pathogenicity of a variant depends not only on its damage but also on the GDQ of the gene, which should be considered in evaluating the pathogenicity/causality of the variants. ...

... To identify potential pathogenic variants, each case was analyzed as previously described Li et al., 2022;Luo et al., 2022). Initially, polymorphic variants with a minor allele frequency (MAF) ≥ 0.005 in the gnomAD database were excluded from further analysis. ...

... 69 Accruing evidence suggests that CELSR1 variants may be causal to focal epilepsy, especially in cases of compound heterozygous variants. 70 The pleiotropy of CELSR1 impacts multiple aspects of the PMS phenotype, including early neural development and lymph and kidney disorders. In addition, CELSR1 plays an important role in recovery from central and peripheral nervous system injury. ...

... Increasing evidence has highlighted the genetic overlap of both epilepsy and NDD (Shimizu et al., 2022). Previously, a series of genes have been identified as causative genes for both epilepsy and NDD, such as GRIN2A, GRIN2B, BCOR, FRMPD4, APC2, NEXMIF, SZT2, SHROOM4, BRWD3, KCNK4, and UNC79 Bian et al., 2022;Li et al., 2022Li et al., , 2023Yan et al., 2022;Bayat et al., 2023;Jin et al., 2023;Luo et al., 2023;Tian et al., 2023;Wang et al., 2023;Ye et al., 2023). However, the majority of overlapping genetic etiologies for epilepsy and NDD remain undetermined. ...

... 7,8 Over the next decade, the CACNA1A seizure spectrum itself expanded beyond generalized and absence epilepsy to encompass status epilepticus, tonic, tonic-clonic, atonic, simple motor seizures, focal seizures with altered awareness, and infantile spasms. [9][10][11] De novo variants in CACNA1A were linked to epileptic encephalopathies, accounting for nearly 1% of cases. 8,12,13 There are also rare cases of biallelic variants, some of which presented with severe, drug-resistant DEE and, in very rare cases, premature mortality. ...

... HLA-B*38 is considered a risk factor for several autoimmune conditions, such as psoriatic arthritis [47], pemphigus vulgaris [48,49] and ankylosing spondylitis (AS) [50]. It is also thought to contribute to the development of various adverse reactions to certain medications [51][52][53]. Although based on a relatively few studies linking B*38 with disease susceptibility, the overall picture portrays the B*38 allele as a potentially detrimental allele. ...

... Reads were mapped to the Genome Reference Consortium Human Genome build 37 (GRCh37) using Burrows-Wheeler alignment. Possible disease-causing mutations/variants in each case were screened as previously described [25]. The candidate variants were validated using Sanger sequencing. ...

... Amino acids can form multifunctional proteins and nucleotides required for body growth, they also play a regulatory role in hormone regulation and metabolic pathways (Chaudhuri et al., 2018;Liu et al., 2021). Deletion or mutation of PGM3 allele can lead to a congenital immune disorder, blocking of the congenital glycosylation pathway, and fetal malformation or death in the early stage of fetal development (Liu et al., 2020). Therefore, PGM3 expression in the normal range is conducive to cell growth and development. ...