We identified five genes encoding components of the TOR signaling pathway within Aspergillus nidulans. Unlike the situation in Saccharomyces cerevisiae, there is only a single Tor kinase, as in plant and animal systems, and mutant phenotypes suggest that the TOR pathway plays only a minor role in regulating nitrogen metabolism.

Introduction: Monosomy 1p36 is one of the most common terminal deletion syndromes, with an approximate incidence of 1 in every 5000 live births. This syndrome is associated with several pronounced clinical features including characteristic facial features, cardiac abnormalities, seizures and mental retardation, all of which are believed to be due to haploinsufficiency of genes within the 1p36 region. The deletion size varies from approximately 1.5 Mb to 10 Mb with the most common breakpoints located at 1p36.13 to 1p36.33. Over 70% of 1p36 deletion patients have a true terminal deletion. A further 7% have interstitial deletions and a proportion have a derivative chromosome 1 where the 1p telomere is replaced by material from another chromosome, either as a result of a de-novo rearrangement or as a consequence of malsegregation of a balanced parental translocation at meiosis.

Pain insensitivity is mediated at the genetic level by the disruption of specific genes associated with neuronal development. Mammalian in vivo and in vitro studies have shown the nerve growth factor (NGF) gene to play an integral role in nerve maintenance and function. Pain insensitivity in humans can be attributed to hereditary sensory and autonomic neuropathies (HSAN) of which there are five classes (HSAN I – HSAN V). The human nerve growth factor beta gene (NGFB) located on chromosome 1p13.2 has been found to cause HSAN V within individuals homozygous for a point mutation in NGFB. Although heterozygotes can display a milder phenotype, this has only been observed in adults. We report a karyotypically normal 5‐year‐old female with developmental delay, mild facial dysmorphism, and unsteady gait. Pain and thermal insensitivity were noted as were recurrent mouth ulcers, facial flushing, recurrent episodes of increased body temperature and unexplained sweating, indicative of a sensory neuropathy with mild autonomic involvement. Array comparative genomic hybridization (aCGH) analysis revealed a de‐novo deletion within chromosome 1p13 of the child involving the NGFB gene. Sequence analysis of the homologous NGFB gene identified no mutation, implying that sensory neuropathy was caused by haploinsufficiency of the NGFB gene.

The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, "second-hit hypothesis" has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9 Mb 15q13.3 deletion and a novel 800 kb 16q22.1 duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function.