Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista)

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  • Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1093/hmg/ddt215 (literal)
Alternative label
  • Teresa Esposito1,+, Rod A. Lea2,+, Bridget H. Maher2, Dianne Moses2, Hannah C. Cox2, Sara Magliocca1, Andrea Angius3, Dale R. Nyholt4, Thomas Titus5, Troy Kay5, Nicholas A. Gray6, Maria P. Rastaldi7, Alan Parnham5, Fernando Gianfrancesco1,? and Lyn R. Griffiths2,?,* (2013)
    Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
    in Human molecular genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Teresa Esposito1,+, Rod A. Lea2,+, Bridget H. Maher2, Dianne Moses2, Hannah C. Cox2, Sara Magliocca1, Andrea Angius3, Dale R. Nyholt4, Thomas Titus5, Troy Kay5, Nicholas A. Gray6, Maria P. Rastaldi7, Alan Parnham5, Fernando Gianfrancesco1,? and Lyn R. Griffiths2,?,* (literal)
Pagina inizio
  • 3654 (literal)
Pagina fine
  • 3666 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 22 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 12 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 18 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', National Research Council of Italy, Naples, Italy, 2Genomics Research Centre, Griffith Health Institute, Griffith University, Gold Coast, QLD 4222, Australia, 3Institute of Genetic and Biomedical Research, National Research Council of Italy, Cagliari, Italy, 4Queensland Institute of Medical Research, Herston Road, Herston, Brisbane 4006, Australia, 5Renal Department, Gold Coast Hospital, QLD, Australia, 6Renal Services, Nambour Hospital, Nambour, QLD, Australia 7Renal Research Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico & Fondazione D'Amico per la Ricerca sulle Malattie Renali, Milano, Italy (literal)
Titolo
  • Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (literal)
Abstract
  • Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2). This study involves a large, unique, multigenerational Australian pedigree in which FSGS co-segregates with progressive heart block with apparent X-linked recessive inheritance. Through a classical combined approach of linkage and haplotype analysis, we identified a 21.19 cM interval implicated on the X chromosome. We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval. The two mutations NXF5-R113W and ALG13-T141L segregated perfectly with the disease phenotype in the pedigree and were not found in a large healthy control cohort. Analysis using bioinformatics tools predicted the R113W mutation in the NXF5 gene to be deleterious and cellular studies support a role in the stability and localization of the protein suggesting a causative role of this mutation in these co-morbid disorders. Further studies are now required to determine the functional consequence of these novel mutations to development of FSGS and heart block in this pedigree and to determine whether these mutations have implications for more common forms of these diseases in the general population. (literal)
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