Medical genetics articles within Nature Communications

Featured

• Article
  17 May 2018 | Open Access

  Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

  Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syndrome.

  • Shazia Ashraf
  • , Hiroki Kudo
  •  & Friedhelm Hildebrandt

• Review Article
  19 February 2018 | Open Access

  Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

  Recall-by-Genotype (RbG) is an approach to recall participants from genetic studies based on their specific genotype for further, more extensive phenotyping. Here, the authors discuss examples of RbG as well as practical and ethical considerations and provide an online tool to aid in designing RbG studies.

  • Laura J. Corbin
  • , Vanessa Y. Tan
  •  & Nicholas J. Timpson

• Article
  18 January 2018 | Open Access

  Identification of genetic elements in metabolism by high-throughput mouse phenotyping

  The genetic basis of metabolic diseases is incompletely understood. Here, by high-throughput phenotyping of 2,016 knockout mouse strains, Rozman and colleagues identify candidate metabolic genes, many of which are associated with unexplored regulatory gene networks and metabolic traits in human GWAS.

  • Jan Rozman
  • , Birgit Rathkolb
  •  & Martin Hrabe de Angelis

• Article
  27 October 2017 | Open Access

  Inequality in genetic cancer risk suggests bad genes rather than bad luck

  Cancer heritability estimates can be obtained via decomposing trait variance into genetic and other factors. Here, the authors obtain the distribution of absolute genetic risk for 15 common cancers, and they use a number of metrics to show that the genetic risk varies considerably across individuals.

  • Mats Julius Stensrud
  •  & Morten Valberg

• Article
  10 October 2017 | Open Access

  Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

  The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.

  • Peter Huppke
  • , Susann Weissbach
  •  & Jutta Gärtner

• Article
  06 July 2017 | Open Access

  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

  During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.

  • Silvio Alessandro Di Gioia
  • , Samantha Connors
  •  & Elizabeth C. Engle

• Article
  31 January 2017 | Open Access

  Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

  Duchenne muscular dystrophy is a disease caused by a single gene, characterized by progressive muscle weakness, but is variable between patients partly due to interactions of other genes. Here, the authors show that a commonACTN3polymorphism can modify the clinical phenotype.

  • Marshall W. Hogarth
  • , Peter J. Houweling
  •  & Kathryn N. North

• Article
  15 December 2016 | Open Access

  A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy

  Previous studies have shown genetic associations between leprosy and 18 different genes/loci. Here, Wang and colleagues perform genome-wide association study in Han Chinese leprosy patients and describe four novel loci to be associated to the disease.

  • Zhenzhen Wang
  • , Yonghu Sun
  •  & Furen Zhang

• Article
  11 October 2016 | Open Access

  Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

  Personalized medicine requires accurate and ethnicity-optimized reference genome panels. Here, the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) evaluates typical variant filters and existing genome databases against newly sequenced African-ancestry populations.

  • Michael D. Kessler
  • , Laura Yerges-Armstrong
  •  & Timothy D. O’Connor

• Article
  06 July 2016 | Open Access

  MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

  Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and osteoblast function.

  • Uschi Lindert
  • , Wayne A. Cabral
  •  & Vorasuk Shotelersuk

• Article
  23 March 2016 | Open Access

  Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

  Circulating metabolites reflect human health and disease. Here, Kettunen et al. perform a genome-wide association study on 123 circulating metabolic traits and identify novel genetic loci influencing systemic metabolism. They also link new molecular pathways with a known cardiovascular risk factor Lp(a).

  • Johannes Kettunen
  • , Ayşe Demirkan
  •  & Mika Ala-Korpela