an-integrated-multimethod-simulation-framework-for-tin-debris-control

An Integrated Multimethod Simulation Framework for Tin Debris Control in Extreme Ultraviolet Lithography

This protocol is a conceptual, integrated modeling framework illustrated with representative results and instructs users on combining the Boltzmann ...

Lanzhou University

Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previous research has identified some  mutation hotspots in Chinese patients with PKU. In this study, we introduce a novel MassArray panel for screening the 29 common  gene mutations in Chinese patients using iPLEX MALDI-TOF MS. 105 Patients with PKU and known  gene mutations were genotyped using this MassArray panel. All of the 29 mutations screened were detected, and MassArray panel results were consistent with those obtained by Sanger sequencing. Fifty patients newly diagnosed with PKU were recruited in the double-blind experiment.  gene variants were detected in these 50 patients using the MassArray panel, and the results were verified with Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) methods. Our results show that the mutation detection rate using the MassArray panel with 29 mutations is 74% (95% CI, 65-83%), and the clinical genetic diagnosis rate is 54% (95% CI, 40-68%). This panel can be used as a high throughput, low cost, and rapid method for screening and diagnosing  gene mutations. The establishment of this approach provides proof-of-concept for future large-scale  mutation carrier screening in areas with high rates of PKU.

Screening of  Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.

Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Beckwith-Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary spherocytosis (HS) is a form of hemolytic anemia associated with a variety of mutations leading to congenital red blood cell (RBC) membrane defects. The prevalence of HS varies by geographic regions around the world, ranging from 1.2 in 100,000 in Asia to 1 in 2000 in Northern Europe.

Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.

Dominant variants in the gap junction beta-2 () gene may lead to various degrees of syndromic hearing loss (SHL) which is manifest as sensorineural hearing impairment and hyperproliferative epidermal disorders, including palmoplantar keratoderma with deafness (PPKDFN). So far, only a few  dominant variants causing PPKDFN have been discovered. Through the whole-exome sequencing (WES), a Chinese female patient with severe palmoplantar hyperkeratosis and delayed-onset hearing loss has been identified. She had a novel heterozygous variant, c.224G>C (p.R75P), in the  gene, which was unreported previously. The proband's mother who had a mild phenotype was suggested the possibility of mosaicism by WES (∼120×), and the ultra-deep targeted sequencing (∼20,000×) was used for detecting low-level mosaic variants which provided accurate recurrence-risk estimates and genetic counseling. In addition, the analysis of protein structure indicated that the structural stability and permeability of the connexin 26 (Cx26) gap junction channel may be disrupted by the p.R75P variant. Through retrospective analysis, it is detected that the junction of extracellular region-1 (EC1) and transmembrane region-2 (TM2) is a variant hotspot for PPKDFN, such as p.R75. Our report reflects the important and effective diagnostic role of WES in PPKDFN and low-level mosaicism, expands the spectrum of the  variant, and furthermore provides strong proof about the relevance between the p.R75P variant in  and PPKDFN.

Case Report: A Novel  Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.

To analyze the clinical phenotype and genetic etiology of three cases of glutaric aciduria type 1 (GA1) in Chinese children.

Article	Year
Screening of Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS. ACS omega\| PubMed ID: 32039316	2020
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. Journal of clinical laboratory analysis\| PubMed ID: 32909271	2021
Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS. Molecular genetics & genomic medicine\| PubMed ID: 35218326	2022
Case Report: A Novel Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness. Frontiers in genetics\| PubMed ID: 35938034	2022
Clinical features and gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review. Molecular genetics and metabolism reports\| PubMed ID: 39185018	2024

Xuan Feng

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