[Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].

Objective: To explore the characteristics of phenylalanine hydroxylase (PAH) gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria (PKU).

Methods: Forty three PKU pedigrees diagnosed at the First Affiliated Hospital of Zhengzhou University between 2019 and 2021 were selected as the study subjects. Variants of the PAH gene of the probands were screened by high-throughput sequencing, and candidate variants were verified by Sanger sequencing.

[Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review].

Objective: To explore the clinical and genetic characteristics of a neonate with Microvillus inclusion disease (MVID).

Methods: A neonate with MVID admitted to the First Affiliated Hospital of Zhengzhou University in May 2019 was selected as the study subject. Clinical data were collected.

[Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome].

Objective: To explore the genetic basis for a rare case with Disorder of sex development.

Methods: Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out.

[Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development].

Objective: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD).

Methods: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out.

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.

Primary amenorrhea as the common symptom has a complicated etiology, and genetic disorders are non-negligible. Kallmann syndrome (KS) is a rare inherited disease characterized by hypogonadotropic hypogonadism and anosmia. KS is uncommon in women and is an unusual cause of primary amenorrhea.

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Objective: The rare condition 46, XY disorders of sex development (DSDs) is characterized by the female phenotype and male karyotype. We aimed to describe the genetic basis of 46, XY DSDs in nine patients and the genotype-phenotype relationships of the genes involved.

Methods: Targeted next-generation sequencing (NGS) was used to analyze the underlying hereditary etiology in nine female patients with 46, XY DSDs.

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

The condition 17a-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare kind of congenital adrenal hyperplasia (CAH) characterized by failure to synthetize cortisol, adrenal androgens and gonadal steroids. Partial deficiency is much rarer, presenting with subtler symptoms. In this study, we summarized the clinical characteristics and identified the underlying gene mutation in four Chinese 46,XX patients with partial 17-OHD.

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Objective: 17 α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 α-hydroxylase deficiency caused by CYP17A1 gene mutations.

Methods: A large cohort of 10 Chinese Han patients with 17-OHD from 2012 to 2020 were enrolled. The clinical and biochemical features were investigated, and genetic mutations of CYP17A1 were analyzed by polymerase chain reaction-Sanger sequencing.

[Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing].

Objective: To explore the genetic cause of a patient suspected for congenital ectodermal dysplasia with repeated hyperthermia and to assess the reproductive risk for his family.

Methods: Medical whole-exome sequencing (WES) were used to detect single-nucleotide variations and low-coverage massively parallel copy number variation sequencing (CNV-seq) were employed to verify suspected CNVs. PCR and real-time quantitative PCR were applied to confirm the deletion of EDA gene.

[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome].

Objective: To explore the genetic basis for a child with multiple malformation and growth retardation.

Methods: The child was subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technique.

Results: G-banding karyotyping analysis has found no abnormality in the boy and his parents.

[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].

Objective: To explore the genetic basis for a patient with Leydig cell hypoplasia.

Methods: Whole exome sequencing was used to detect genetic variants in the patient. Suspect variants were verified by PCR and Sanger sequencing of the family members.

Mix-breeding with HEV-infected swine induced inapparent HEV infection in SPF rabbits.

Studies have shown that swine HEV (sHEV) and rabbit HEV (rHEV) can experimentally infect rabbits and swine, respectively. However, no published data have documented isolating sHEV strains from rabbits in natural environment so far. To clarify the possibility of natural cross-species transmission of sHEV to rabbits, the pigs with HEV infection were farmed along with SPF rabbits in the same enclosed space.

Swine and rabbits are the main reservoirs of hepatitis E virus in China: detection of HEV RNA in feces of farmed and wild animals.

Hepatitis E virus (HEV) infection is recognized as a zoonosis. The prevalence of HEV RNA and anti-HEV antibodies in many animal species has been reported, but the host range of HEV is unclear. The aims of this study were to investigate HEV infection in various animal species and to determine the reservoirs of HEV.

Hepatitis E vaccine immunization for rabbits to prevent animal HEV infection and zoonotic transmission.

Hepatitis E virus (HEV) infection has become a significant global public health concern as increasing cases of acute and chronic hepatitis E are reported. HEV of animal origin was proved to be a possible source of human infection and a previous study showed that the recent licensed HEV 239 vaccine can serve as a candidate vaccine to manage animal sources of HEV infection. However, previous immunization strategy for rabbits was the same as that for human, which is too costly to conduct large-scale animal vaccination.

Hepatitis E virus infection in farmed rabbits and swine in the Eastern Chinese city Lianyungang: showing no potential interspecies transmission.

Rabbit HEV isolated recently from farmed rabbits in China has been shown experimentally to be able to infect both cynomolgus macaques and pigs. The purpose of the present study was to investigate the extent to which cross-species transmission of rabbit HEV in farm settings is a significant factor in the spread of this zoonotic infection. Rabbit and swine feces were collected from the same area in Eastern China (Lianyungang City) and analyzed by RT-PCR.

SPF rabbits infected with rabbit hepatitis E virus isolate experimentally showing the chronicity of hepatitis.

This study focused on investigating the pathogenesis seen in specific-pathogen-free (SPF) rabbits following infection with a homologous rabbit HEV isolate (CHN-BJ-rb14) and comparing it to that seen following infection with a heterologous swine genotype 4 HEV isolate (CHN-XJ-SW13). Three of the four animals inoculated with the homologous rabbit HEV became infected, exhibiting an intermittent viremia, obvious fluctuations of liver function biomarkers alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and persistent fecal virus shedding throughout the nine month study. In addition, liver histopathology showed both chronic inflammation and some degree of fibrosis.