Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Background: O'Donnell-Luria-Rodan (ODLURO) syndrome is a newly described neurodevelopmental disorder caused by a pathogenic KMT2E variant. The primary clinical phenotypes include developmental delay, intellectual disability (ID), and epilepsy. Epilepsy, observed in 29% of affected individuals, has not been thoroughly investigated.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).

Nephrogenic diabetes insipidus results from a novel in-frame deletion of gene in monozygotic-twin boys and their mother and grandmother.

Objectives: Mutations in the gene are the most common cause of nephrogenic diabetes insipidus (NDI). In-frame deletions of the gene are a rare variant that results in NDI. We report a novel variant of the p.

Bmal1 regulates female reproduction in mice via the hypothalamic-pituitary-ovarian axis.

The hypothalamic-pituitary-gonadal axis (HPG) is the key neuroendocrine axis involved in reproductive regulation. Brain and muscle ARNT-like protein 1 (Bmal1) participates in regulating the metabolism of various endocrine hormones. However, the regulation of Bmal1 on HPG and female fertility is unclear.

Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.

Background: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China.

Methods: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time.

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children.

Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is identified only through newborn screening for diseases.

Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

Background: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent respiratory infections. MDS is caused by the duplication of a chromosomal region located on chromosome Xq28, which contains the methyl CpG binding protein-2 (MECP2) gene.

Study on Color Quantitative Expression, Replication and Color Origin of Gray-Purple Nephrite from Qinghai, China Based on Spectroscopy Methods.

Color is one of the most important factors in evaluating the quality and price of jewelry. Quantitative research on color of jewels has been a hotspot in gemological science. Whether for jewelry industry or gems research, observing and describing the gems’ color characteristics under transmission light is an essential method.

A Chimera Polypeptide with Active Sites of HWTX-I and AAI.

The functional amino acid sequence and its neighbouring fragments in the molecule of Amaranth alpha-amylase inhibitor isolated from seeds of the Mexican crop plant Amaranthus hypochondriacus were transferred, by solid phase chemical synthesis, into N-terminal region of the huwentoxin-I(HWTX-I). The synthetic chimera polypeptide was confirmed by Edman degradation and MALDI-TOF mass spectroscopy. The formation of three disulfide bonds and special conformation of the synthetic chimera was induced by the addition of glutathione.