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Huanming Yang, Zhiming Cai, Jun Wang and colleagues report whole-exome sequencing of 10 clear cell renal cell carcinomas followed by a screen of ~1,100 genes in a total of 98 tumors. They found 12 new disease-associated genes and detected frequent alterations in the ubiquitin-mediated proteolysis pathway.
Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.
Fowzan Alkuraya and colleagues report the identification of a truncating mutation in DNASE1L3 in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.
Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.
Kenneth Kinzler and colleagues report exome sequencing of ten hepatocellular carcinoma tumors and matched normal tissue. They identify inactivating mutations in the chromatin remodeling gene ARID2 in a total of 9 out of 139 HCC tumors.
Richard Houlston, Matthias Simon and colleagues report that common variation at 10p12.31 influences meningioma susceptibility. The risk variants are located upstream of MLLT10, which encodes an activator of Wnt-dependent transcription.
Alon Keinan and colleagues estimate the ratio of genetic diversity on the X chromosome to that on the autosome (X/A) on the basis of whole-genome sequencing of 69 females from the 1000 Genomes Project. They find that across populations, the X/A ratio increases with genetic distance from genes. They further find that this ratio is reduced in Europeans compared to West Africans, which may be explained by demographic history.
Walter Kahr and colleagues report mutations in NBEAL2 in gray platelet syndrome (GPS). Using RNA-seq, the authors observed abnormal pre-mRNA processing in NBEAL2 in platelets from an individual with GPS.
Meral Gunay-Aygun and colleagues report that NBEAL2 is mutated in gray platelet syndrome (GPS). GPS is a recessive platelet disorder that can lead to severe bleeding.
Cornelis Albers and colleagues identify NBEAL2 as the causative gene for gray platelet syndrome (GPS). Knockdown of this gene in zebrafish leads to spontaneous bleeding and defects in thrombocyte formation.
Han Brunner and colleagues report the identification of de novo nonsense mutations in ASXL1 in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations.
Nazneen Rahman and colleagues show that biallelic, loss-of-function mutations in CEP57 cause a constitutional mosaic aneuploidy syndrome. These findings show that CEP57 function is crucial for maintaining correct chromosomal number during cell division.
Cédric Le Caignec and colleagues show that truncating mutations in the last exon of NOTCH2 cause Hajdu-Cheney syndrome, a rare disorder marked by facial anomalies, osteoporosis and multiple organ defects. The mutations are predicted to result in an increase in NOTCH2 signaling.
Richard Trembath and colleagues show that mutations in NOTCH2 cause Hajdu-Cheney syndrome, a multisystem disorder marked by severe and progressive bone loss. The mutations are predicted to result in elevated NOTCH2 signaling.
Rulla Tamimi and colleagues report a meta-analysis of five genome-wide association studies for percent mammographic density. They identify an associated locus at ZNF365, which has also been associated with susceptibility to breast cancer.
Tom Karlsen and colleagues report a genome-wide association study for primary sclerosing cholangitis, a chronic bile duct disease. They identify susceptibility loci at MST1 and near BCL2L11.
Johannes Dauwerse and colleagues report the identification of mutations in the genes encoding subunits of RNA polymerases I and III, which are involved in transcription of rRNA and tRNA, in individuals with Treacher Collins syndrome. These findings support the hypothesis that TCS is a ribosomopathy.
Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.
Guillaume Lettre and colleagues report fine-mapping at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectively explain a substantial fraction of the heritable variation in this trait.
Michael Hammer and colleagues follow two recent conflicting reports regarding the ratio of X-linked to autosomal nucleotide diversity by examining this question in a larger resequencing dataset and in publicly available sequence data from six human genomes. They suggest that the patterns of nucleotide diversity are influenced by local selection near genes that more strongly affects the X chromosome than the autosomes.