Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Background: Hereditary nephropathy is an important cause of renal insufficiency and end-stage renal disease. Therefore, for couples with monogenic nephropathy, preventing transmission of the disease to offspring is urgent. Preimplantation genetic testing for monogenic disorders (PGT-M) is a means to prevent intergenerational inheritance by screening and transplanting normal embryos.

[Genetic analysis of a case of mild epilepsy due to variant of SCN9A gene].

Objective: To explore the genetic etiology of a patient with epilepsy and provide genetic counseling.

Methods: A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation.

Carbon Transfer Decision Model Based on LMDI Method.

Establishing a coordinated governance mechanism for regional carbon emissions is an essential way to achieve carbon peak and carbon neutrality, while the study of interprovincial carbon emissions transfer is one of the important foundations of regional carbon emissions coordinated governance research. Based on the multiregional input-output (MRIO) model, this study calculated the carbon emissions from both the producers' perspective and the consumers' perspective and analyzed the interprovincial net carbon emissions transfer decision. Furthermore, the logarithmic mean Divisia index (LMDI) method was adopted to decompose the factors that affect the province's net carbon emissions into technological effect, structural effect, input-output effect, and scale effect.

[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].

Objective: To explore the genetic basis for a patient with tuberous sclerosis complex.

Methods: Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing.

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.

Background: Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1-0.2‰.

[Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome].

Objective: To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT).

Methods: All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay.

Results: The probands of pedigrees 1 and 2 have respectively carried a c.

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Objective: To explore the genetic basis for a pedigree affected with Alport syndrome.

Methods: Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls.

Results: A novel missense c.

[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].

Objective: To analyze variant of IDS gene in a pedigree affected with mucopolysaccharidosis type II (MPS II).

Methods: The proband was subjected to next generation sequencing and Sanger sequencing to identify potential variants. Suspected variant was analyzed by its co-segregation with the disease in the pedigree.

Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.

Purpose: To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene.

Methods: Reverse transcription PCR (RT-PCR) and Sanger sequencing were carried out to confirm the causative variant of CD40LG gene in the proband and parents.

A Novel Splicing Mutation in the Gene in a Family With Congenital Contractural Arachnodactyly.

Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide. CCA is characterized by arachnodactyly, camptodactyly, the contracture of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in (which encodes fibrillin-2) are responsible for causing this disease.

[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].

Objective: To detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).

Methods: The patient was subjected to next-generation sequencing and Sanger sequencing. Suspected mutations were validated by Sanger sequencing.