Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Background: PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q13 genomic region, including the deletion of SHANK3. Methods: Genetic and phenotype evaluations of ten Chinese pediatric patients were performed. The clinical phenotypes and genetic testing results were collected statistically. We analyzed the deletion of the 22q13 genomic region and small mutations in SHANK3 (GRCh37/hg19) and performed parental genotype verification to determine whether it was related to the parents or was a novel mutation. Results: The age of the patients diagnosed with PMS ranged from 0 to 12 years old. Nine of the pediatric patients experienced Intellectual Disability, language motion development delay and hypotonia as prominent clinical features. One subject had autism, two subjects had abnormal electroencephalogram discharge and one subject was aborted after fetal diagnosis. Three patients had a SHANK3 mutation or deletion. All but the aborted fetuses had intellectual disability. Among the ten patients, a deletion in the 22q13 region occurred in seven patients, with the smallest being 60.6 kb and the largest being >5.5 Mb. Three patients had heterozygous mutations in the SHANK3 gene. Conclusion: All ten patients had novel mutations, and three of these were missense or frameshift mutations. For the first time reported, it is predicted that the amino acid termination code may appear before protein synthesis. The novel mutations we discovered provide a reference for clinical research and the diagnosis of PMS.

[The Design, Synthesis, Characteristics and Photoelectric Properties Research of A Bulky Steric Hindrance 9-Phenyl-Fluorene Functionalized Aniline Intermediate].

In this paper, with sulfuric acid as a catalyst and acetic acid as solution at the temperature of 120 ℃ and refluxing period for 24 hours, a sterically hindered bulky 9,9-diarylfluorene intermediate of [9-(4-anilino)-9-phenyl-fluorene] had been successfully designed and synthesized with Friedel-Crafts reaction. The molecular structure of this compound was characterized in detail with nuclear magnetic resonance hydrogen spectrum, mass spectrometry, infrared ray, and so on. Nuclear magnetic resonance hydrogen spectrum and infrared ray spectrum of the compound indicated that the characteristic functional group amino of the compound at 6.55 ppm, 3 481 and 3 385 cm-1, respectively. UV-visible and fluorescence spectra properties of 9-(4-anilino)-9-phenyl-fluorene were characterized and discussed preliminarily, respectively. The research results show that the 9-(4-anilino)-9-phenyl-fluorene with bulky steric hindrance effects has four main absorption peaks with wavelength of 243, 257, 298 and 311 nm in dichloromethane solution, respectively. Moreover, with the excitation wavelength of 308 nm, an emission spectrum curve was obtained with wavelength of 300～500 nm, which has the maximum emission peak of 328 nm with a slim peak at about 405 nm and a long tail to 500 nm. The long tail was probably attributed to the interaction of intermolecular hydrogen bonding from aniline. The appropriate scope of fluorescence emission (300~500 nm) make the compound overlap with the absorption spectra of the classic blue material Bis(3,5-difluoro-2-(2-pyridyl)phenyl-(2-carboxypyridyl)iridium (Ⅲ) (FIrpic) (300~500 nm). It is possible to obtain excellent host materials through proper molecular tailoring and prepare well for high performance light-emitting device. In order to further understand the photoelectric properties of the compound, we used acetonitrile as solvent and tetrabutylammonium hexafluorophosphate as electrolyte, and the electrochemical properties of the compound was characterized with cyclic voltammetry measurements.The onset of the reduction and oxidation potential of the compound are -0.759 and 0.898 V, and the corresponding HOMO and LUMO energy levels are -5.38 and -3.72 eV, which wolud be beneficial to holes and electrons injection/transportation and further modified to be excellent host materials. All of these data would provide a useful reference for further fabrication of organic semiconductor luminescent device with high performance.

Hydrothermal preparation and electrochemical sensing properties of TiO(2)-graphene nanocomposite.

A facile hydrothermal method has been developed and shown to be effective for the preparation of TiO(2)-graphene nanocomposite. The as-prepared nanocomposite was characterized using FT-IR spectroscopy, powder X-ray diffraction (XRD) and scanning electron microscopy (SEM). The TiO(2)-graphene modified glassy carbon electrode (GCE) exhibited remarkable electron transfer kinetics and electrocatalytic activity toward the oxidation of dopamine (DA). Furthermore, the oxidation of common interfering agent such as ascorbic acid (AA) was significantly suppressed at this modified electrode, which resulted in good selectivity and sensitivity for electrochemical sensing of DA. These results demonstrate that the TiO(2)-graphene hybrid material has promising potential applications in electrochemical sensors and biosensors design.