MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Background: Germline mosaicisms could be inherited to offspring, which considered as "de novo" in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study, we focused on MECP2 germline mosaicism in males, not only RTT fathers.

Report of the Largest Chinese Cohort With Gene Defect and Literature Review.

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases were mainly from Saudi Arab regions, and presented with relatively simple clinical course because of the hot spot mutation (T422A).

Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.

The gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by mutations is wide. The aim of this study is to demonstrate its phenotypic diversity and analyze the genotype-phenotype correlations in a cohort of Chinese patients.

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

The dysfunction of methyl-CpG-binding protein 2 (MeCP2) is associated with several neurological disorders, of which Rett syndrome (RTT) is the most prominent. This study focused on a Chinese patient cohort with MECP2 mutations, and analyzed the characteristics of these mutations and their clinical manifestations. In total, 666 patients were identified with 126 different MECP2 mutations, including 22 novel mutations.

The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. Most of the reported cases came from Taiwan China, but patients from mainland China were seldomly reported. The current study was the largest AADCD patient cohort from mainland China.

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China. Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed retrospectively. From January 2000 to January 2019, 31 patients were diagnosed with DRD.

Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin.

Rett syndrome (RTT), a severe postnatal neurodevelopmental disorder, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 is a chromatin organizer regulating gene expression. RTT-causing mutations have been shown to affect this function.

[Paroxysmal crying and motor regression for more than two months in an infant].

The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus.

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

The second author Jiarui Li is now listed as a co-first author according to her contribution to this paper. The list of authors who contributed equally now reads: Qingping Zhang, Xiaoxu Yang, Jiaping Wang, and Jiarui Li. This has now been corrected in both the PDF and HTML versions of the Article.

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Purpose: This study aimed to investigate the genetic etiology of epilepsy in a cohort of Chinese children.

Methods: Targeted next-generation sequencing (NGS) was performed for 120 patients with unexplained epilepsy, including 71 patients with early-onset epileptic encephalopathies, and 16 patients with Dravet syndrome (including three patients with a Dravet-like phenotype) but without SCN1A pathogenic variants.

Results: Pathogenic variants of 14 genes were discovered in 22 patients (18%).

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Purpose: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders.

Methods: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed.

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

Background: MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations.

Methods: In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patients presented with Rett syndrome (RTT) or RTT-like syndrome, and 68 patients with non-syndromic ID.

A cytotoxic cardenolide and a saponin from the rhizomes of Tupistra chinensis.

A new cardenolide tupichinolide (1) and a new steroidal saponin tupichinin A (2), together with seven known compounds, were isolated from the rhizomes of Tupistra chinensis. Their structures were established using spectroscopic analysis and chemical methods. Compound 1 was the first cardenolide isolated from Tupistra chinensis and exhibited potent cytotoxicity against five human cancer cell lines: HL-60, SMMC-7721, A-549, MCF-7 and SW480.

Studies on chemical fingerprints of Siraitia grosvenorii fruits (Luo Han Guo) by HPLC.

A novel, efficient, and accurate fingerprinting method using high performance liquid chromatography-photodiode array detection has been developed and optimized for the investigation and demonstration of the variance in chemical properties among Siraitia grosvenorii fruits from different origins. The effects of growth stages, cultivated varieties, collection locations, and fruit portions of the herb on chromatographic fingerprints were examined. Eleven compounds were identified on chromatograms by comparing the retention time and UV spectrum of each peak separately with those of external references.

New pregnane glycosides from Brucea javanica and their antifeedant activity.

Three new pregnane glycosides, 3-O-β-D-glucopyranosyl-(1→2)-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3β,20-diol (1), 3-O-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3β,20-diol-20-O-β-D-glucopyranoside (2), 3-O-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3β,20-diol-20-O-β-D-glucopyranosyl-(1→2)-β-D-glucopyranoside (3) were isolated along with four known compounds, 4-7, from the leaves and stems of Brucea javanica. Their structures were determined by detailed analyses of 1D- and 2D-NMR spectroscopic data. All of the compounds isolated from Brucea javanica were tested for the antifeedant activities against the larva of Pieris rapae.

Cucurbitane glycosides from unripe fruits of Siraitia grosvenori.

Studies on the constituents of the unripe fruits of Siraitia grosvenori led to the isolation of three new cucurbitane triterpene glycosides, 11-oxomogroside III (10), 11-dehydroxymogroside III (11), and 11-oxomogroside IV A (12). Their structures were determined on the basis of detailed analyses of 1D, 2D-NMR spectroscopic methods. All of the compounds isolated from the unripe fruits of S.