Activation of γ-globin expression by a common variant disrupting IKAROS-binding motif in β-thalassemia.

Programmed silencing of γ-globin genes in adult erythropoiesis is mediated by several chromatin remodeling complexes, which determine the stage-specific genome architecture in this region. Identification of cis- or trans-acting mutations contributing to the diverse extent of Hb F might illustrate the underlying mechanism of γ-β globin switching. Here, we recruit a cohort of 1142 β-thalassemia patients and dissect the natural variants in the whole β-globin gene cluster through a targeted next-generation sequencing panel.

Quantification of human embryonic ζ-globin chains in Southeast Asian deletion (--) carriers.

Aims: Reactivation of embryonic ζ-globin is a promising strategy for genetic treatment of α-thalassaemia. However, quantification of ζ-globin as a quantitative trait in α-thalassaemia carriers and patients remains incompletely understood. In this study, we aimed to set up a reliable approach for the quantification of ζ-globin in α-thalassaemia carriers, followed by a population study to investigate its expression patterns.

Clinical and genetic features of retinoschisis in 120 families with mutations.

Background/aims: X-linked retinoschisis (XLRS), associated with , is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with variants in China.

Methods: variants were collected from our in-house exome data and were predicted by multiple-step bioinformatics analysis.

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.

Background: Isolated sulfite oxidase deficiency (ISOD) is a life-threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis strategy for the pathogenicity analysis of the SUOX gene within a limited time and to lay the foundation for precise genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis.

Methods: Two offspring from one set of parents were studied.

Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.

Mutations in RHO are the most common cause of autosomal dominant retinitis pigmentosa. However, the pathogenicity of many RHO variants is questionable. This study was designed to investigate the genotype-phenotype correlation for RHO variants.

Effects of Nicotinamide on Cervical Cancer-Derived Fibroblasts: Evidence for Therapeutic Potential.

Purpose: The present study aimed to examine the effects of nicotinamide (NAM) on cervical cancer-associated fibroblasts (CAF) for its in vitro efficacy, gross inhibition, and mechanism of inhibition.

Methods: The fibroblasts were treated with pre-specified concentrations of NAM followed by measurement of the cell proliferation using CCK-8 assay. The production of reactive oxygen species (ROS) was measured by 2',7'-Dichlorofluorescin diacetate.

Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.

Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic disease. PDZD7 is a new ARNSHL associated gene. Until now, nine PDZD7 biallelic mutation families with ARNSHL have been reported.

Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family.

Objectives: Prenatal diagnosis (PND) procedure is urgent to be established for timely management and fatal consequence prevention of factor XIII deficiency (FXIIID), and variations data among Chinese are very scanty. We aimed to find a novel mutation among Chinese and establish a rapid and precise PND procedure with pathogenicity analysis to contribute to the prevention of postpartum hemorrhage in pregnant women and central nervous system bleeding in newborns.

Methods: FXIIID was diagnosed by qualitative and quantitative tests of clot solubility test and enzyme-linked immunosorbent assay, respectively.