A new familial case of microdeletion syndrome 10p15.3.

In 2012 a small terminal deletion in the short arm of chromosome 10 in the region 10p15.3 was reported as a novel microdeletion syndrome. By now 21 patients, including a single familial case, have been reported.

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.

DICER1 syndrome can mimic different genetic tumor predispositions.

DICER1, a RNAse endonuclease involved in the processing of siRNA and microRNA, is known to play a pivotal role in the post-transcriptional regulation of gene expression. Germ line mutations in the DICER1 gene increase the risk for different types of tumors. At present, DICER1 syndrome is an established, though not well defined, member of the group of genetic tumor predisposition syndromes.

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual deficits.

The nicotinic acetylcholine receptor alpha 4 subunit contains a functionally relevant SNP Haplotype.

Background: Non-coding single nucleotide polymorphisms within the nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) are robustly associated with various neurological and behavioral phenotypes including schizophrenia, cognition and smoking. The most commonly associated polymorphisms are located in exon 5 and segregate as part of a haplotype. So far it is unknown if this haplotype is indeed functional, or if the observed associations are an indirect effect caused by linkage disequilibrium with not yet identified adjacent functional variants.

Single nucleotide polymorphism creating a variable upstream open reading frame regulates glucocorticoid receptor expression.

The glucocorticoid and mineralocorticoid receptors are known to play a crucial role in cellular responses to acute and chronic stress conditions. However, the influence of genetic variants and regulatory mechanisms within the glucocorticoid and mineralocorticoid receptor genes NR3C1 and NR3C2 is still incompletely understood. We therefore investigated putative upstream open reading frames, a motif regulating gene expression, from the 5' untranslated regions of the predominant human glucocorticoid receptor gene NR3C1 isoform alpha variant 1 and from the human mineralocorticoid receptor NR3C2 variants 1 and 2.

A non-coding mutation in the 5' untranslated region of patched homologue 1 predisposes to basal cell carcinoma.

Mutations in the human homolog of the Drosophila patched gene, patched homologue 1 (PTCH-1), are responsible for most hereditary and sporadic basal cell carcinomas. Here, we present a father and daughter with a high propensity for the development of basal cell carcinoma who were heterozygous for a non-coding germline mutation in the 5' untranslated region (UTR) of PTCH-1 (insertion of a surplus CGG triplet at the site of a seven times CGG repeat). We analysed the impact of this mutation on PTCH translation using a luciferase-based reporter vector.

Nicotinic acetylcholine receptor subunits α4 and α5 associated with smoking behaviour and lung cancer are regulated by upstream open reading frames.

Nicotinic acetylcholine receptor subunits (nAChR) are associated with different aspects of smoking behaviour as well as with smoking related disorders. Several of these subunits have been found to be upregulated in smokers or differentially expressed in lung tumor cells. The mechanisms behind these observations are not known but assumed to be mainly post-transcriptional.

Melanocortin-3-receptor promoter polymorphism associated with tuberculosis susceptibility does not influence protein expression.

Background: The melanocortin-3-receptor (MC3R) is a member of the G-protein coupled receptor family that mediate cellular response through the cyclic adenosine monophosphate signalling pathway. In the promoter region of MC3R the polymorphism rs6127698 has previously been shown to be strongly associated with tuberculosis susceptibility. It is predicted to generate an alternative transcription factor binding site.

Reporting a research project on the potential of aged care nurse practitioners in the Australian Capital Territory.

Aim: This paper reports a project investigating the potential role of the nurse practitioner in aged care across residential, community and acute care venues in the Australian Capital Territory.

Background: Australia, like many other countries, faces unprecedented challenges in the provision of health care. Escalating health care costs, an ageing population, increasing prevalence of comorbidities and chronic illnesses, inefficient health care delivery, changing models of health care and shifting professional role boundaries are factors that have contributed to the development of advanced practice roles for nursing.