Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Authors: Butler, Merlin G.; Rafi, Syed K.; Hossain, Waheeda; Stephan, Dietrich A.; Manzardo, Ann M.
Abstract
Classical autism or autistic disorder belongs to a group of genetically heterogeneous conditions known as Autism Spectrum Disorders (ASD). Heritability is estimated as high as 90% for ASD with a recently reported compilation of 629 clinically relevant candidate and known genes. We chose to undertake a descriptive next generation whole exome sequencing case study of 30 well-characterized Caucasian females with autism (average age, 7.7 +/- 2.6 years; age range, 5 to 16 years) from multiplex families. Genomic DNA was used for whole exome sequencing via paired-end next generation sequencing approach and X chromosome inactivation status. The list of putative disease causing genes was developed from primary selection criteria using machine learning-derived classification score and other predictive parameters (GERP2, PolyPhen2, and SIFT). We narrowed the variant list to 10 to 20 genes and screened for biological significance including neural development, function and known neurological disorders. Seventy-eight genes identified met selection criteria ranging from 1 to 9 filtered variants per female. Five females presented with functional variants of X-linked genes (IL1RAPL1, PIR, GABRQ, GPRASP2, SYTL4) with cadherin, protocadherin and ankyrin repeat gene families most commonly altered (e. g., CDH6, FAT2, PCDH8, CTNNA3, ANKRD11). Other genes related to neurogenesis and neuronal migration (e. g., SEMA3F, MIDN), were also identified.
In Situ Syntheses, Diversified Coordination Modes and Strong Photo-Luminescent Properties of Two Tetrazole Complexes
CHINESE JOURNAL OF INORGANIC CHEMISTRY
Authors: Gao Ji-Xing; Xu Qing; Tan Yu-Hui; Liu Yi; Wen He-Rui; Tang Yun-Zhi
Abstract
Two tetrazole complexes, {[Zn-2(midt)(Hmidt)](N-3)center dot H2O}(n) (1) and [Mn(midt)(2)center dot(H2O)(2)]center dot H2O (2) (midt=1-methyl-1H-imidazole-4,5-ditetrazole), were synthesized via hydrothermal reaction of 1-methyl-1H-imidazole-4,5-dicarbonitrile (midn) and NaN3 in the presence of ZnCl2 or MnSO4 center dot 7H(2)O as Lewis acid. X-ray single crystal diffraction analyses indicate that both 1 and 2 have different crystal structures although they crystallize in the same P (1) over bar space group. Complex 1 demonstrates an interesting two dimensional polymeric structure which contains two crystalgraphically different Zn(II) ions and midt ligands with diversified coordination modes, while 2 shows a 3D supramolecular structure involving a water clusters chain. Moreover, 1 and 2 display strong blue emission at 353 and 382 nm at room temperature. CCDC: 1451129, 1; 1451130, 2.