One of the most mutation-prone sequences is the variable number of repeating DNAs at the myotonic dystrophy (DM1) gene, causing muscular dystrophy. In DM1 individuals the mutant gene has an expansion of a repeated DNA sequence CTG CTG CTG to hundreds or thousands of repeats. We report a new kind of mutation at the DM1 […]
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Chromosomes do it by halves (Contributed by Darren K Griffin, PhD, DSc, FIBiol, FRCPath)
Extra/missing chromosomes are the leading cause of mental retardation, pregnancy loss and IVF failure. Most arise in the egg however the mechanism by which errors occur is under debate. Normally, each chromosome of a pair migrates to opposite cell poles before cell division (disjunction); the textbook dogma suggests that errors occur when two chromosomes migrate […]
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour (Contributed by Christian P. Kratz, M.D.)
Testicular cancer is the most common cancer affecting young men and, like many other adult-onset cancers, multiple-case families do occur. The genetic architecture of familial and sporadic cancers often differs, with rare, highly-penetrant mutations causing the former, and multiple common low-penetrance genetic variants underlying the latter. The study by Kratz and colleagues investigated familial testicular […]
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease (Contributed by Audrey Grant)
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 (Contributed by Katy Freed PhD)
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 (Contributed by Claudio Pignata, MD)
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 (Contributed by Paolo Gasparini)
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? (Contributed by Dr Gabriella Pichert)
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 (Contributed by Zsofia K. Stadler, MD)
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 […]