A novel splicing variant causing mild methylmalonic acidemia phenotype.

Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused by mutations in the gene encoding methyl-malonyl coenzyme A mutase (). In this study, we investigated the possible mechanisms underlying the symptoms of isolated MMA in a patient by molecular analysis.

Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome sequencing (WES) was performed to identify the candidate variant with a negative result initially.

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Background: To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatment of NTDs by intervening PCP signal transduction.

Methods: 112 NTDs patients were collected as the case group and 112 craniocerebral trauma patients as control. Afterwards, blood genomic DNA was extracted and sequenced.

Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes.

Low vitamin D levels may play a role in type 1 diabetes (T1D) susceptibility. Since 25(OH)D synthesis is genetically regulated, single nucleotide polymorphisms (SNPs) of important genes have also been shown to modulate the risk of T1D, so this study aimed to investigate the relationship between five SNPs in CYP2R1, DHCR7, CYP24A1, VDR genes, serum 25(OH)D levels and T1D in Chinese children. This case-control study included 141 T1D patients and 200 age-matched healthy children.

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the gene.

Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 () gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration (3∼17 mmol/L). In addition, they are often accompanied by ocular abnormalities, intellectual disability, and growth retardation.

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.

Background: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze the pathogenic DEPDC5 variant in the small family of three.

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Background: Missense variants in MED12 are associated with MED12-related disorders. We aimed to clarify the molecular level changes and underlying pathogenic mechanism of a female patient in our study.

Methods: We reported a Chinese girl with clinical characteristics similar to MED12-related disorders.

Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein.

Background: Myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-associated disorders (MOGADs) have been considered as a new inflammatory disease entity of the central nervous system (CNS) and have heterogeneous clinical and imaging presentations. Acute disseminated encephalomyelitis (ADEM) is one of the most important phenotypes. Our research is aimed to compare the clinical and magnetic resonance imaging (MRI) characteristics of ADEM with or without MOG-IgG in pediatric-acquired demyelinating syndromes (ADSs).

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

Background: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity.

Case Presentation: We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases.

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study.

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by Variant and Mitochondrial Gene Variant.

Background: β-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder caused by genetic defects in mitochondrial DNA.

Case Presentation: One 8-year-old boy presented with dizziness, vomiting, and convulsions.

Complicated Hereditary Spastic Paraplegia Caused by Variants in a Chinese Family.

Background: The serine active site-containing protein 1 () biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, we present a case from a Chinese family with disordered metabolism and dystonia owing to variants; the clinical phenotypes of the proband were different from those of MEGDEL syndrome but were similar to those juvenile-onset complicated hereditary spastic paraplegia. Thus, in this study, we aimed to confirm the relationship between variants and complicated hereditary spastic paraplegia.

[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].

Objective: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency.

Methods: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants.

Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria.

Aims: The study aimed to investigate the value of autoantibodies in predicting the risk of ketoacidosis or microalbuminuria in children with type 1 diabetes mellitus.

Methods: Clinical data and laboratory indicators of 80 patients with type 1 diabetes admitted to the Department of Endocrinology in Tianjin Children's Hospital, from June 2017 to March 2019, were retrospectively analyzed. The patients were divided into two groups: diabetes without ketoacidosis group (n = 20) and diabetes with ketoacidosis group (n = 60).

A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia.

Introduction: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by biallelic variants in TRPM6 gene.

Methods: In this study, we reported a Chinese patient diagnosed with HSH in Tianjin Children's Hospital. Detailed clinical examination and laboratory test were performed and whole exome sequencing (WES) was applied to detect the pathogenic gene in the proband.

A cohort of five cases with asymmetric conjoined twining and literature review.

Purpose: Asymmetric conjoined twining (ACT) is a form of conjoined twining which is a rare malformation of monochorionic monoamniotic twin pregnancy. Most publications were single case reports. We reported a cohort of five cases with ACT from a single tertiary medical center and reviewed the case reports of ACT over the last decade to enrich the clinical research of this disease and summarized the clinical features of the disease.

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.

Background: Methylmalonic acidemia (MMA) is a rare inherited metabolic disease caused by methylmalonyl-CoA deficiency or cobalamin metabolism disorder. It is mainly inherited in autosomal recessive mode. According to whether combined with homocysteinemia and the causative genes, it can be divided into many different subtypes.

Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.

Spinal muscular atrophy (SMA) is a type of autosomal recessive genetic disease, which seriously threatens the health and lives of children and adolescents. We attempted to find some genes and mutations related to the onset of SMA. Eighty-three whole-blood samples were collected from 28 core families, including 28 probands with clinically suspected SMA (20 SMA patients, 5 non-SMA children, and 3 patients with unknown etiology) and their parents.

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.

Background: Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

Case Presentation: The patient was a 2-year-old boy who underwent surgery in our hospital.

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.

Background: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring.

Methods: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms.

Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

The original version of this article unfortunately contained an error.

Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

Purpose: Neural tube defects (NTDs) are one of the most prevalent and the most severe congenital malformations worldwide. Studies have confirmed that folic acid supplementation could effectively reduce NTDs risk, but the genetic mechanism remains unclear. In this study, we explored association of single nucleotide polymorphisms (SNP) within folate metabolic pathway genes with NTDs in Han population of Northern China.