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Background: Newborn screening (NBS) aims to detect congenital anomalies, and next‐generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient. Methods: We developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases. An interpretation system to grade the results into positive (high‐risk, moderate‐risk, and low‐risk genotypes), negative, and carrier according to the American College of Medical Genetics (ACMG) guidelines was also developed. We validated the panel to evaluate its efficacy by using data from the "1000 Genomes Project" and conducted a pilot multicenter study involving 3423 neonates. Results: The NGS positive rate in the 1000 Genomes Project was 7.6% (23/301), whereas the rate was 12.0% in the multicenter study, including 3249 recruited neonates. Notably, in 200 neonates, positive per conventional NBS, 58.5% (69/118) showed results consistent with NGS. In the remaining 3049 neonates showing negative results in conventional NBS, 271 (8.9%) were positive per NGS, and nine of them were clinically diagnosed with diseases in the follow‐up. Conclusion: We successfully designed a NeoEXOME panel for targeted sequencing of monogenic inherited diseases in NBS. The panel demonstrated high performance in the Chinese population, particularly for the early detection of diseases with no biochemical markers. [ABSTRACT FROM AUTHOR]

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis., (© 2020 Wiley Periodicals, Inc.)

Shanghai is a megacity located in a hazard-prone region, but one in which local residents have not actively engaged in disaster risk management. This paper aims to identify factors of perception that influence residents' propensity to adopt risk-mitigating measures. It presents results of a structured questionnaire survey administered to Shanghai residents. Results show that risk-mitigating measures are deemed to be important if people: (1) have frequently experienced extreme weather; (2) believe that extreme weather events are severe in Shanghai; and (3) are concerned about other public risks confronting international society, such as energy security and terrorism. It is important to note that the third point has resulted in greater impacts than the other two factors. A cultural explanation is offered in this paper. Public risk awareness emanates from a generic concern over the security of the human world. This generic concern acts as a socio-cultural backdrop that contextualises the ways in which individuals respond to natural hazards. The significance of this factor indicates the need for broadening the analytical scope of risk perception research in China. These findings are useful for local policymakers, emergency managers and community and aid organisations seeking to develop creative strategies for risk education and communication. [ABSTRACT FROM AUTHOR]