Turner syndrome is caused by complete or partial absence of the 2nd X chromosome and affects about 1/2500 females. To localize the region of the X chromosome responsible for congenital heart defects (CHD) in the syndrome, this study compared the prevalence of CHD in groups missing the entire 2nd X to those missing only the […]
Latest articles
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Individual differences in breast size are a conspicuous feature of variation in human females and have been associated with fecundity and advantage in selection of mates. To identify common variants that are associated with breast size, we conducted a large-scale genotyping study in 7,169 European women across 3 independent sample collections. As it may be […]
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Silver-Russell Syndrome is a rare imprinting disorder characterised by fetal and postnatal growth failure and body asymmetry. The spectrum of features is broad and it can be difficult to diagnose clinically. Furthermore, current genetic testing is only positive in about 50% of cases (the genetic basis for the remainder are currently unknown). We have evaluated […]
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
The diagnosis of neurofibromatosis type I (NF1) has traditionally rested upon the presence of certain clinical features, including café-au-lait macules and freckling on the skin, and a variety of tumours, particularly neurofibromas. Skin changes are often the earliest manifestation, and therefore of particular significance when assessing people at risk of NF1. A rare, atypical, form […]
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
West syndrome, a severe form of epileptic encephalopathy, has been linked to mutations in several genes. Banne and collaborators present a severely affected family, with West syndrome, accompanied by severe microcephaly and gray matter heterotopia. By using whole Exome sequencing, a mutation in ARFGEF2, a gene coding a protein involved in the activation of ADP […]
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study
Previous studies have convincingly shown that genetic variants in the genes HFE and TMPRSS6 are associated with the iron parameters serum iron, ferritin, transferrin saturation and total iron binding capacity. It was commonly thought that these associations could be explained by the intermediate effect of the genes on serum hepcidin, the central regulatory molecule of […]
Digenic inheritance in medical genetics
Digenic inheritance (DI) of a disease in a family means that the variants at two genes or loci explain which individuals are affected or unaffected more clearly than the genotypes at one locus alone. This article catalogs case studies of human DI, since the first such example was published in 1994. One objective is to […]
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy
Paclitaxel is a microtubule-binding drug widely used to treat several solid tumors. The paclitaxel dose-limiting toxicity is peripheral neuropathy, which is dose-cumulative and occurs in about one third of the patients. It exhibits a large interindividual variability of unknown molecular basis. We have conducted a GWAS in patients uniformly treated with paclitaxel/carboplatin by which we […]
Meta-Analysis of Genome-Wide Studies Identifies MEF2C SNPs Associated with Bone Mineral Density at Forearm
This paper finds very different variants in MEF2C are associated with forearm bone mineral density (BMD) compared to the MEF2C variants associated with femoral neck BMD. We conclude that these variants are likely independent signals that have different independent effects on the two BMD phenotypes. It is also possible that both associations arise from several […]
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
Infantile neuroaxonal dystrophy (INAD) is a recessive disease that results in total neurologic degeneration and death in childhood. A family with two INAD sibs without mutation in PLA2G6, the known gene for INAD, was investigated. NALCN was identified as the gene responsible for the disease. The gene protein forms an ion channel that has a […]