Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.

Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.

Current status and trends in thalassemia burden across South, East and Southeast Asia, 1990-2021 a systematic analysis for the global burden of disease study 2021.

Objective: Thalassemia, an inherited hemoglobin synthesis disorder, imposes a significant health burden in Asian regions with high prevalence. Detailed patterns and trends of the disease across countries and territories within these regions remain underexplored. Our study focuses on the disease burden indices of thalassemia within the four GBD-defined Asian regions and the twenty-five included countries and territories.

The role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.

The regulation of γ-globin expression is crucial due to its beneficial effects on diseases like β-thalassemia and sickle cell disease. B-cell lymphoma/leukemia 11A (BCL11A) is a significant suppressor of γ-globin, and microRNAs (miRNAs) targeting BCL11A have been shown to alleviate this suppression. In our previous high-throughput sequencing, we identified an 11.

Global Trends on β-Thalassemia Research Over 10 Years: A Bibliometric Analysis.

Purpose: Thalassemia, an inherited quantitative globin disorder, is the most prevalent monogenic disease globally. While severe alpha thalassemia results in intrauterine death, β-thalassemia manifests during childhood due to the "second conversion of hemoglobin", garnering increased attention in recent decades.

Methods: In this study, a bibliometric analysis was conducted of thalassemia articles published in the Web of Science Core Collection database between 2013 and 2023 to establish a comprehensive overview and to identify emerging trends.

Regulation of N-methyladenosine modification in erythropoiesis and thalassemia.

In eukaryotic RNA, N-methyladenosine (mA) is a prevalent form of methylation modification. The mA modification process is reversible and dynamic, written by mA methyltransferase complex, erased by mA demethylase, and recognized by mA binding proteins. Through mediating RNA stability, decay, alternative splicing, and translation processes, mA modification regulates gene expression at the post-transcriptional level.

The interactions between ineffective erythropoiesis and ferroptosis in β-thalassemia.

In Guangxi, Hainan, and Fujian Province in southern China, β-thalassemia is a frequent monogenic hereditary disorder that is primarily defined by hemolytic anemia brought on by inefficient erythropoiesis. It has been found that ineffective erythropoiesis in β-thalassemia is closely associated with a high accumulation of Reactive oxygen species, a product of oxidative stress, in erythroid cells. During recent years, ferroptosis is an iron-dependent lipid peroxidation that involves abnormalities in lipid and iron metabolism as well as reactive oxygen species homeostasis.

Deciphering the Epigenetic Landscape: Placental Development and Its Role in Pregnancy Outcomes.

The placenta stands out as a unique, transitory, and multifaceted organ, essential to the optimal growth and maturation of the fetus. Functioning as a vital nexus between the maternal and fetal circulatory systems, it oversees the critical exchange of nutrients and waste. This exchange is facilitated by placental cells, known as trophoblasts, which adeptly invade and remodel uterine blood vessels.

Experience of copy number variation sequencing applied in spontaneous abortion.

Purpose: We evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal abnormalities (CA) in spontaneous abortion specimens.

Methods: A total of 650 products of conception (POCs) were collected from spontaneous abortion between April 2018 and May 2020. CNV-seq and QF-PCR were performed to determine the characteristics and frequencies of copy number variants (CNVs) with clinical significance.

Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.

Objectives: The molecular etiology of non-syndromic hearing loss (NSHL) in Southeastern China (Fujian) has not been precisely identified. our study selected patients with NSHL and analyzed their causative genes, which helped to improve the accuracy of the diagnosis of hereditary hearing loss (HHL) and its treatment.

Methods: 251 unrelated patients who attended the otolaryngology clinic of Fujian Maternal and Child Health Hospital with hearing loss were enrolled to our study.

Genetic evaluation for twin pregnancies using karyotyping and single nucleotide polymorphism array analysis.

The study aimed to assess chromosomal abnormalities in twin pregnancies using karyotyping and SNP array analysis. The research involved 530 twin pregnancies from two prenatal diagnosis centers between October 2012 and October 2022. Two types of twin pregnancies were considered: monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA), with a total of 177 MCDA and 353 DCDA cases.

The clinical value of hsa-miR-190b-5p in peripheral blood of pediatric β-thalassemia and its regulation on BCL11A expression.

Background: The B cell CLL/lymphoma 11A (BCL11A) is a key regulator of hemoglobin switching in β-thalassemia (β-thal). Previous study has suggested that dysregulated microRNAs are involved in the regulation of BCL11A expression. The aim of this study was to investigate the clinical value of hsa-miR-190b-5p in β-thal, and to confirm the regulatory effect of hsa-miR-190b-5p on BCL11A expression.

Identification of a novel 91.5 kb-deletion (αα) in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing.

Objectives: To present a novel 91.5-kb deletion of the α-globin gene cluster (αα) identified by genetic assay and prenatal diagnosis in a Chinese family.

Subjects And Methods: The proband was a 34-year-old G3P1 (Gravida 3, Para 1) female at the gestational age of 21 weeks with a history of an edematous fetus.

Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.

Objectives: The aim of this study was to explore the frequency and profile of non-mosaic sex chromosome abnormalities detected in prenatal diagnosis over the past 10 years.

Methods: We retrospectively reviewed pregnancies diagnosed with non-mosaic sex chromosome abnormalities between January 2012 and December 2021, using karyotyping and/or single nucleotide polymorphism (SNP) array. Maternal age, indications for testing, and outcomes were recorded.

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.

Background: Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our study aimed to explore the genetic findings for FGR without structural malformations according to cytogenetic karyotyping and single nucleotide polymorphism array (SNP array) technology over a 10-year period.

Methods: A total of 488 pregnancies diagnosed with FGR without structural malformation were retrospectively reviewed.

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.

The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an important member. According to recent studies, variations in the coding region of the PLS1 gene are associated with the development of deafness. However, the molecular mechanism of deafness caused by PLS1 gene variants remains unknown.

Analysis of genotype-phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China.

Background: There is a high carrying rate of α-thalassemia in Fujian province. However, there are few large-scale studies on the correlation between genotype and phenotype in Fujian province. The purpose of this study was to analyze the phenotype and genotype in a cohort of 2923 patients with α-thalassemia in Fujian province, so as to provide reference data for screening and diagnosis of α-thalassemia in Fujian province.

Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.

Objective: Single-molecule real-time technology (SMRT) is a sequencing technology using the DNA polymerases and fluorescently tagged nucleotides to accurately sequence DNA strands. The purpose of this study was to evaluate the detection accuracy of SMRT for identification of the Hong Kongαα (HKαα) thalassemia allele.

Methods: We conducted a blinded study of 33 samples of known HKαα alleles.

Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism.

The prenatal BACs-on-Beads™ (BoBs) assay was introduced for rapid detection of abnormalities of chromosomes 13, 18, 21, X, and Y and specific nine significant microdeletion syndromes. The ability of prenatal BoBs to detect mosaicism ranged from 20 to 40%. However, there have been no prenatal studies of sex chromosome mosaicism in prenatal BoBs.

Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.

Background: Heterozygotes of HPFH and δβ thalassemia are clinically asymptomatic or have mild hemoglobin (Hb) values. However, when both HPFH and δβ-thalassemia are coinherited with heterozygous β-thalassemia, patients may progress to a clinical phenotype of thalassemia intermedia or thalassemia major. The purpose of this study was to characterize the genotypes and analyze the phenotypes of these disorders in Fujian Province, to offer advice for genetic counseling and accurate prenatal diagnosis in this region.

Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China.

Background: Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia. However, due to the differences in ethnic populations and genotypes, the distribution of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A (HbA) varies in different regions. This study aimed to examine screening efficiency of these indicators in different genotypes of alpha-thalassemia in Fujian Province, China.