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Martin Zenker, Marco Tartaglia, Reza Ahmadian and colleagues report the identification of a restricted spectrum of NRAS mutations in individuals with Noonan syndrome. Functional testing revealed that the mutations confer enhanced stimulus-dependent MAPK activation.
David Hinds and colleagues report that a non-synonymous variant in PNPLA3 is associated with alcoholic liver disease and liver cirrhosis. This result follows previously reported associations of this variant with nonalcoholic fatty liver disease.
Raoul Hennekam and colleagues report the identification of mutations in CCBE1 that cause Hennekam syndrome in humans. Features of Hennekam syndrome include lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics. CCBE1 encodes Collagen and Calcium-Binding EGF domain-1, a secreted protein that has been shown to be required for embryonic lymphangiogenesis in zebrafish.
Arthur Beaudet and colleagues report a recurrent 680-kb deletion within chromosome 15q13.3 associated with a range of neurodevelopmental phenotypes, including developmental delay, mental retardation and seizures. The deletion lies within the previously reported 1.5-Mb 15q13.3 deletion and spans only two genes, CHRNA7 and OTUD7A.
Ingo Kurth and Christian Hübner report the identification of loss-of-function mutations in FAM134B, which encodes a novel cis-Golgi protein, in hereditary sensory and autonomic neuropathy type II.
Beben Benyamin and colleagues report a genome-wide association study to iron status, identifying variants in TMPRSS6 associated with serum iron, transferrin saturation and erythrocyte volume.
Dilys Parry and colleagues show that duplications of the T gene confer susceptibility to familial chordoma, a cancer of presumed notochordal origin. The T gene product, known as brachyury, is a transcription factor that plays an important role in notochord development.
Meredith Yeager and colleagues with the Cancer Genetics Markers of Susceptibility (CGEMS) initiative report a new association to prostate cancer at chromosome 8q24. This defines a new locus, region 4, which shows association to prostate cancer susceptibility independent of previously reported associations at 8q24.
Douglas Easton and colleagues report a comprehensive analysis of SNP associations to prostate cancer across the 8q24 region. They report 8 SNPs in 5 blocks independently associated to prostate cancer risk.
David Craig and colleagues recently reported methods allowing detection of individual genotypes from summary data of high-density SNP arrays. Eran Halperin and colleagues now report analyses of the statistical power of these methods, employing likelihood ratio statistics to provide an upper-bound to the limits of detection.
Christine Skibola and colleagues report a genome-wide association study for three subtypes of non-Hodgkin lymphoma. They report an association of a variant in the PSORS1 region in the MHC to increased risk of follicular lymphoma.
Daniel Gudbjartsson and colleagues report a genome-wide association study for atrial fibrillation, a condition associated with increased risk of stroke. They report a variant in ZFHX3 associated with atrial fibrillation as well as ischemic stroke.
Emelia Benjamin and colleagues report a meta-analysis of genome-wide association study data for atrial fibrillation, a condition associated with stroke and heart failure, in five European community-based cohorts of the CHARGE consortium. They report an association in ZFHX3 to atrial fibrillation, with replication in an independent cohort from the German AF Network.
Matthew Freedman and colleagues show that a region on 8q24 associated with colorectal cancer risk functions as an enhancer and undergoes long-range interactions with MYC. They further show that alleles at the risk-associated SNP bind differentially to TCF7L2, a transcription factor in the Wnt pathway.
Jutta Gartner and colleagues identify five pathologic mutant alleles in the RNASET2 gene that compromise its enzymatic activity and that are responsible for the CMV infection–like neurological disorder cystic leukoencephalopathy without megalencephaly (CLM).
Massimo Zeviani and colleagues identify a factor, called SDHAF1, required for assembly of the mitochondrial succinate dehydrogenase ubiquinone reductase complex by conducting a genetic analysis of two families segregating a rare, progressive leukoencephalopathy.
André Uitterlinden and colleagues report a genome-wide association study for age at natural menopause, from the Rotterdam Study and TwinsUK, with replication in additional cohorts. They report three loci associated with age at natural menopause, which is a known risk factor for several cancers, osteoporosis and cardiovascular disease.
André Uitterlinden and colleagues report loci at 9q31.2 and LIN28B associated with age at menarche from a meta-analysis of genome-wide association studies including 17,510 females from eight different population-based cohorts.