Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.

Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.

Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome.

Down syndrome (DS) is the most example of aneuploidy, resulting from an additional copy of all or part of chromosome 21. Competing endogenous RNAs (ceRNAs) play important roles in neuronal development and neurological defects. This study aimed to identify hub genes and synergistic crosstalk among ceRNAs in the DS fetal hippocampus as potential targets for the treatment of DS-related neurodegenerative diseases.

[Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency].

Objective: To explore the value of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency (PID).

Methods: Clinical data was collected from four couples with a childbearing history of PID who had sought genetic counseling and undergone genetic testing at Henan Provincial People's Hospital from February 2017 to December 2021. Whole exome sequencing (WES) was performed on both partners of each couple, and candidate variants were validated by Sanger sequencing and fluorescent quantitative PCR.

Functional analysis of a novel nonsense variant c.91A>T of the gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the function of the variant in an attempt to explain the new pathogenesis of the TRAPPC2 protein in SEDT. Briefly, DNA and RNA samples from the peripheral blood of SEDT individuals were prepared.

[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].

Objective: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome.

Methods: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger sister were collected.

[Expert consensus on the genetic diagnosis for Dystrophinopathies].

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire.

[Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene].

Objective: To explore the genetic etiology for a child featuring mental retardation and speech delay.

Methods: Clinical data of the child was collected. DNA was extracted from peripheral blood samples of the child and members of his pedigree.

[Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy].

Objective: To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.

Methods: 7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group.

[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].

Prospective research have shown that whole exome sequencing (WES) may be considered when a diagnosis cannot be obtained using routine prenatal methods, e.g., chromosomal karyotyping and copy number variation sequencing, for fetuses with significant structural anomalies.

[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene].

Objective: To analyze the clinical features and genetic variant in a patient with Usher syndrome.

Methods: Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.

[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].

Objective: To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).

Methods: PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.

Results: The proband was found to harbor a novel variant of c.

[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].

Objective: To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).

Methods: Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing.

Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.

Cohen syndrome (CS) is an autosomal recessive congenital disorder characterized by mutation in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. In the current study, a Chinese family has two young sibling cases having a developmental delay, physical obesity, high myopia, and a special face, which suspected to be CS. The purpose of the study was to identify variants and further analyze their pathogenicity for CS.

[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].

Objective: To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).

Methods: PCR and Sanger sequencing was carried out for the patient and her parents.

Results: The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination.

[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].

Objective: To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).

Methods: Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing.

[Prenatal diagnosis of partial trisomy 3q in a fetus].

Objective: To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.

Methods: Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.

[Genetic analysis of a pedigree affected with Bartter's syndrome].

Objective: To explore the genetic basis for a pedigree affected with Bartter's syndrome (BS).

Methods: Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient.

[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β].

Objective: To analyze the clinical features and genetic mutations in a patient with mucolipidosis type II α/β by using next generation sequencing.

Methods: Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method.

[Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome].

Objective: To explore the clinical and genetic features of a patient suspected with Juvenile Parkinson's syndrome (JP).

Methods: Clinical features of the patient were analyzed. Genomic DNA of the patient and his parents was extracted from peripheral blood samples and sequenced by exome capture sequencing.

Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.

Introduction: Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the six identified AOS genes.

Methods: We performed targeted next-generation sequencing (NGS) of a child with an AOS phenotype.

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed significantly in evaluating the etiology of heterogeneous disease.

[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].

Objective: To detect potential mutation of the WAS gene in a Chinese family affected with Wiskott-Aldrich syndrome.

Methods: Peripheral blood samples were collected from the proband and his family members. All exons and flanking regions of the WAS gene were subjected to PCR amplification - Sanger sequencing as well as restriction endonuclease analysis.

[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].

OBJECTIVE To detect potential mutations of the EXT1 and EXT2 genes in a pedigree affected with hereditary multiple exostosis (HME). METHODS For a four-generation family with 7 affected individuals from 17 family members,genomic DNA was extracted from peripheral venous blood samples. All exons of the EXT1 and EXT2 genes were screened for potential mutation by PCR and Sanger sequencing.