Screening of genes interacting with high myopia and neuropsychiatric disorders.

Clinical studies have demonstrated an association between high myopia (HM) and neuropsychiatric disorders; however, the underlying mechanism of the association is not clear. We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines published by the American College of Medical Genetics (ACMG) and bioinformatics analysis to clarify the interrelationship between candidate genes. Causative genes for ocular diseases (45.

Synthesis of Acyl Azides from 1,3-Diketones via Oxidative Cleavage of Two C-C Bonds.

A metal-free PhI(OAc)-mediated method for the synthesis of acyl azides through oxidative cleavage of 1,3-diketones is described. This method is shown to have a broad substrate scope, providing a useful tool for multiproduct synthesis in a single procedure. A possible reaction pathway is proposed based on mechanistic studies.

mutation in a Chinese family with unusual Crouzon syndrome.

Aim: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.

Methods: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the gene was employed for mutation identification.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

Aim: To screen mutations in the retinitis pigmentosa 1 (RP1) gene and the rhodopsin (RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento (RPSP) and describe the genotype-phenotype relationship of the mutations.

Methods: Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012. The clinical features were determined by complete ophthalmologic examinations.