Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes.

This study aimed to assess the pathogenicity of newly identified tuberous sclerosis Complex 1 (TSC1) and TSC2 variants, contributing definitive evidence for the diagnosis of TSC. A total of 103 TSC patients underwent TSC genetic testing using standardized protocols, and genetic testing was extended to their respective families. Analysis of genetic testing results considered clinical phenotype and gene pathogenicity based on the 2012 revision of the International Society of TSC.

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Background: Congenital heart disease (CHD) exhibits a marked male predominance in birth prevalence, yet the genetic mechanisms underlying this sex disparity remain poorly understood. This study investigates the contribution of rare damaging variants on autosomes and the X chromosome to sex differences in foetal CHD.

Methods: Parents of foetuses with CHD were recruited for the study.

A Novel FLNA Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia.

FLNA (OMIM:300017) is important during the development of the embryonic heart and vasculature. The genotype-phenotype relationship of X-linked myxomatous valvular dystrophy caused by FLNA mutation has been reported. We report a new FLNA gene mutation in two male fetuses of a Chinese family whose transmission pattern of congenital heart disease was consistent with X-linked recessive inheritance.

Achieving a High in n-Type Sb-Doped MgSiSn via High-Pressure-Modulated Microstructures.

MgSi-based compounds are cost-effective and environmentally friendly thermoelectric materials. However, the current Mg(Si,Sn) solid solutions still suffer from the low figure of merit (or the low energy conversion efficiency), especially the low averaged value ( < 1.0).

Green tea polyphenol alleviates silica particle-induced lung injury by suppressing IL-17/NF-κB p65 signaling-driven inflammation.

Background: Silicosis, an interstitial lung disease caused by inhalation of silica particles, poses a significant health concern globally. Green tea polyphenol (TP) stands out as a promising therapeutic candidate, yet its specific protective effects and in-depth mechanisms against silicosis have not been thoroughly investigated.

Purpose: This study aimed to systematically assess the protective potential of TP against silicosis and to elucidate the underlying mechanisms of its action.

Enhanced Thermoelectric Performance of SnTe via Introducing Resonant Levels.

SnTe has emerged as a non-toxic and environmentally friendly alternative to the high-performance thermoelectric material PbTe, attracting significant interest in sustainable energy applications. In our previous work, we successfully synthesized high-quality SnTe with reduced thermal conductivity under high-pressure conditions. Building on this, in this work, we introduced indium (In) doping to further decrease thermal conductivity under high pressure.

Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing.

Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we successfully developed a TSC2 knockout (TSC2-/-) human embryonic stem cells (hESCs) line using CRISPR/Cas9 gene editing.

Enhancement and Broadening of the Internal Electric Field of Hole-Transport-Layer-Free Perovskite Solar Cells by Quantum Dot Interface Modification.

Hole-transport-layer-free perovskite solar cells have attracted strong interest due to their simple structure and low cost, but charge recombination is serious. Built-in electric field engineering is an intrinsic driver to facilitate charge separation transport and improve the efficiency of photovoltaic devices. However, the enhancement of the built-in electric field strength is often accompanied by the narrowing of the space charge region, which becomes a key constraint to the performance improvement of the device.

[Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome].

Objective: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.

Methods: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected.

[Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome].

Objective: To explore the genetic basis for a fetus with Cardiac-urogenital syndrome (CUGS).

Methods: A fetus with congenital heart disease identified at the Maternal Fetal Medical Center for Fetal Heart Disease, Beijing Anzhen Hospital Affiliated to Capital Medical University in January 2019 was selected as the study subject. Clinical data of the fetus was collected.

Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.

Aims: Copy number variant-sequencing (CNV-seq) and exome sequencing (ES) have been used as powerful tools in understanding the role of genetic variants in congenital heart diseases (CHDs). A few previous large cohort studies have utilized CNV-seq and ES to investigate prenatally diagnosed CHD. Here, we sought to determine the value of CNV-seq and ES for genetic evaluation of foetal CHDs.

Association between placental DNA methylation and fetal congenital heart disease.

Congenital heart disease (CHD) is a worldwide problem with high morbidity and mortality. Early diagnosis of congenital heart disease is still a challenge in clinical work. In recent years, few studies indicated that placental methylation may be predictors of CHD.

Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery.

Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Congenital heart disease (CHD) is the most common structural abnormality in patients with ARSA. We aimed to assess the prevalence of genetic abnormalities, particularly sequence variants, in fetuses with CHD and ARSA.

Placental DNA Methylation Abnormalities in Prenatal Conotruncal Heart Defects.

This study aims to characterize the abnormal changes in placental DNA methylation associated with conotruncal heart defects (CTDs) and the level of methylation as epigenetic biomarkers for CTDs detection. This was a prospective study involving 28 fetuses diagnosed with CTDs in the second trimester at Beijing Anzhen Hospital between September 2020 and June 2021. These cases were classified into four groups based on their subtypes.

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to investigate the clinical characteristics and genetic spectrum of a fetal cohort with heterotaxy.

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer. Further clinical reports and studies are needed to identify the association between LVNC and LQTS and the underlying mechanism. A 26-year-old primigravida was referred at 25 weeks gestation for prenatal echocardiography due to fetal bradycardia detected during the routine ultrasound examination.

Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.

Background: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of clinical reports. The BAF complex plays a crucial role in embryogenesis and cardiac development, and pathogenic variants in genes encoding the components of the BAF complex have been associated with congenital heart disease (CHD).

Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family.

Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC.

Methods: We performed a complete prenatal ultrasound and echocardiographic examination on a fetus with cardiac abnormality and a parent-child trio whole-exome sequencing to identify the potential genetic causes.

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Background: Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%-15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by panel sequencing or multiplex ligation-dependent probe amplification (MLPA).

Methods: We analyzed eight fetuses with CR and their families.

Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.

Noncompaction Cardiomyopathy (NCCM) has been classified as primary genetic cardiomyopathy and has gained increasing clinical awareness; however, little is known about NCCM in the fetal population. We aimed to investigate the clinical characteristics and genetic spectrum of a fetal population with NCCM. We retrospectively reviewed all fetuses with a prenatal diagnosis of NCCM at a single center between October 2010 and December 2019.

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome.

Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-gene splicing assay to demonstrate the predicted harmful effects of an intronic variant of FBN-1.

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

Background: The NONO gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair. Hemizygous variants in NONO have been reported to cause mental retardation, X-linked, syndromic 34 (MRXS34) in males.

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.

Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In the present study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation between FBNI gene mutation and MFS.

Generation of a NONO homozygous knockout human induced pluripotent stem cell line by CRISPR/Cas9 editing.

The non-POU domain containing octamer-binding gene (NONO) encodes a member of a small family of RNA-binding and DNA-binding proteins, whose variants can cause intellectual disability and congenital heart defects. In this study, we generated a homozygous NONO knockout (NONO-KO) induced pluripotent stem cell (iPSC) line (CMUi002-A-1) using the CRISPR/Cas9-based genome editing system. The gene-edited line had a normal karyotype, expressed pluripotency markers, and was able to differentiate into all three germ layers in vivo.