Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.

Background: Isoleucinyl-tRNA synthetase (IARS) is encoded by the IARS1 gene and catalyzes the binding of isoleucine to specific tRNA.

Objective: This study aims to investigate the pathogenicity of novel IARS1 variants and the genotype-phenotype association, in order to expand the spectrum of pathogenic variants and phenotypes of IARS1-related disease and provide new evidence for the phenotypic spectrum of IARS1 variants.

Methods: Clinical data of the proband were collected, and trio whole-exome sequencing (WES) was performed on the proband and the parents.

Correlation of TGF-β signaling pathway gene polymorphisms with unexplained recurrent spontaneous abortion.

Background: The association of key genes in the transforming growth factor-β (TGF-β) signaling pathway and their gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) is unclear.

Objective: To investigate the association of gene polymorphisms related to the TGF-β signaling pathway in URSA women.

Methods: The study population consisted of 80 women with URSA and 90 normal control women, of which 10 women with URSA and 10 normal control women underwent high-throughput sequencing to select loci, and the remaining 70 women with URSA and 80 normal control women underwent flight mass spectrometry experiments to verify gene loci polymorphism.

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes of the three children were normal.

Novel compound heterozygous missense mutations in cause Charcot-Marie-Tooth type 4A.

Homozygous or compound heterozygous mutations in the gene cause Charcot-Marie-Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically and genetically diagnosed with recessive CMT4A that is caused by a compound novel heterozygous mutation. The genomic DNA of the proband with the clinical diagnosis of CMT was screened for mutations using a targeted next-generation sequencing (NGS) gene-panel that comprised of 27 CMT genes.

[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].

Objective: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity.

Methods: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents.

Identification of DW532 as a novel anti-tumor agent targeting both kinases and tubulin.

Aim: 7,8-Dihydroxy-4-(3-hydroxy-4-methoxyphenyl)-2H-chromen-2-one (DW532) is one of simplified analogues of hematoxylin that has shown broad-spectrum inhibition on tyrosine kinases and in vitro anti-cancer activities. The aim of this study was to identify DW532 as a agent targeting both kinases and tubulin, and to investigate its anti-cancer and anti-angiogenesis activities.

Methods: In vitro tyrosine kinases activity was examined with ELISA, and tyrosine kinases activity in cells was evaluated with Western blot analysis.