Mendelian diseases for which a single mutation can be identified in a given patient may be characterized by genetic heterogeneity if different patients bear mutations in several different genes. We demonstrate through simulations that a statistical approach (called S/EmpP) can more easily identify chromosomal regions likely to bear mutations in the context of genetic heterogeneity […]
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The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells
Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of […]
FOXN1 mutation abrogates prenatal T-cell development in humans
For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance. The disease caused by this alteration, called Nude/SCID, is the […]
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
The manuscript by Girotto et al. describes the discovery of new genes and pathways that underlie normal hearing function. The strategy applied combines the power of studying isolated populations with a) a general screening of hearing function, b) high-throughput SNP analysis, c) Genome Wide Association Studies (GWAS), and d) up-to-date in silico pathways construction. Data […]
Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?
Developmental delay, learning difficulties, behavioural abnormalities and birth defects are often caused by gains or losses of genetic material. Array comparative genomic hybridisation (aCGH) is a new technology which is more sensitive than previous technologies, and therefore detects these causative changes and provides a diagnosis in more patients than was previously possible. However, a(CGH) may […]
Germline PALB2 mutation analysis in breast–pancreas cancer families
Genetic mutations in the PALB2 gene have been implicated in predisposition to pancreatic cancer as well as breast cancer. The goal of this study was to evaluate whether PALB2 mutations are also found in families that have a history of both breast and pancreatic cancers. In 77 breast-pancreas cancer families, including 22 patients with a […]
Call for Abstracts/Papers, Fourth Summit on Systems Biology, June 15-17, Richmond, Virginia, USA
Summit on Systems Biology 2011 Molecular Networks and Disease June 15-17, 2011 at the Jefferson Hotel in Richmond, Virginia http://www.vcu.edu/csbc/systemsbiologysummit/ The overarching goal of this summit is to bring together key individuals applying systems approaches to research in molecular medicine and its application to the diagnosis or treatment of disease and to encourage discussion and […]
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly
RRM2B is a nuclear gene that encodes p53R2, a protein required for synthesising mitochondrial DNA (mtDNA). Accumulation of multiple mtDNA deletions in muscle and other tissues is a relatively frequent cause of mitochondrial disease in adults. Multiple mtDNA deletions arise because of faulty mtDNA replication, and we now show that 4% of 50 patients seen […]
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory […]