Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12
PEDIATRIC NEUROLOGY
Authors: Halevy, Ayelet; Basel-Vanagaite, Lina; Shuper, Avinoam; Heiman, Shlomit; Har-Zahav, Adi; Birk, Efrat; Maya, Idit; Kornreich, Liora; Inbar, Dov; Nuernberg, Gudrun; Nuernberg, Peter; Steinberg, Tamar; Straussberg, Rachel
Abstract
Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient's age and sex. We describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping Nspl 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.2-q24.12. The candidate region includes 22 known or predicted genes, including RAD21, which is related to the cohesion complex EIF3H, which is involved in translation initiation, and TAF2, which may be involved in intellectual disability. Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition. (C) 2012 Elsevier Inc. All rights reserved.
Hydrothermal syntheses, crystal structures and characterizations of two new metal-fluorides based on niobium and tantalum
INORGANIC CHEMISTRY COMMUNICATIONS
Authors: Feng, Yuquan; Meng, Zhaohui; Huang, Qunzeng; Qiu, Dongfang; Shi, Hengzhen
Abstract
Two novel metal-fluorides [H2N(C2H4)(2)NH2][NbOF5](1) and [H2N(C2H4)(2)NH2][TaF2](2) have been obtained by a two-step hydrothermal method and characterized by elemental analysis, IR. PXRD, EDS. TG analysis and single-crystal X-ray diffraction. X-ray diffraction reveals that both compounds exhibit the supramolecular architectures through the electrostatic interactions and hydrogen bonding interactions between protonated piperazine and anions. In the [NbOF5](2-) of compound 1, the Nb atom moves from the center of the octahedron toward the oxide atom to form a short Nb=0 bond and long terminal Nb-F bond. In compound 2, the Ta atom can be described as a pentagonal bipyramidal geometry coordinated by seven fluorine atoms. Furthermore, the UV spectra in solid state of compounds 1 and 2 have also been discussed, which shows both of them have strong absorption bands. (C) 2010 Elsevier B.V. All rights reserved.