Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.

Background: X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The gene at Xp11.23 encodes ovarian tumor deubiquitinase 5 protein, which is a deubiquitinating enzyme member of the ovarian tumor family.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Background: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes.

Long-lasting neurotoxicity of prenatal benzene acute exposure in rats.

Benzene is a common element of environmental pollution. Although this substance is not recognized as a teratogenic agent, it is not known whether prenatal exposure to benzene may induce neurobehavioral changes in the progeny. Benzene 0.

Long-lasting behavioral changes induced by pre- or neonatal exposure to diazepam in rats.

Prenatal treatment with small doses of diazepam may counteract the effect of physical stress in rats, normalizing the time course of neonatal reflexes and the behavioral responses in adulthood. However, prenatal administration of diazepam in greater doses may induce desensitization of gamma-aminobutyric acid A (GABA(A)) receptors and induce hypersensitivity to convulsants. This study was designed to examine in rats the influence of prenatal or neonatal diazepam treatment on development of neonatal reflexes, as index of brain maturation, and susceptibility to pentylenetetrazol-induced convulsions in adulthood.