Skip to main content
placeholder image

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2

Journal Article


Download full-text (Open Access)

Abstract


  • Duplications in 16p11.2 are a risk factor for schizophrenia

    (SCZ). Using genetically modified zebrafish, Golzio and

    colleagues identified KCTD13 within 16p11.2 as a major

    driver of the neuropsychiatric phenotype observed in

    humans. The aims of the present study were to explore the

    role of KCTD13 in the development of SCZ and to provide a

    more complete picture of the allelic architecture at this risk

    locus. The exons of KCTD13 were sequenced in 576

    patients. The mutations c.6G>T and c.598G>A were

    identified in one patient each. Both mutations were

    predicted to be functionally relevant and were absent from

    the 1000 Genomes Project data and the Exome Variant

    Server. The mutation c.6G>T was predicted to abolish a

    potential transcription factor-binding site for specifity

    protein 1. Altered specifity protein 1 expression has been

    reported in SCZ patients compared with controls. Further

    studies in large cohorts are warranted to determine the

    relevance of the two identified mutations.

UOW Authors


  •   Degenhardt, Franziska (external author)
  •   Heinemann, Barbara (external author)
  •   Strohmaier, Jana (external author)
  •   Pfohl, Marvin A. (external author)
  •   Giegling, Ina (external author)
  •   Hofman, Andrea (external author)
  •   Ludwig, Kerstin U. (external author)
  •   Witt, Stephanie H. (external author)
  •   Ludwig, Michael (external author)
  •   Forstner, Andreas J. (external author)
  •   Albus, Margot (external author)
  •   Schwab, Sibylle
  •   Borrmann-Hassenbach, Margitta (external author)
  •   Lennertz, Leonhard (external author)
  •   Wagner, Michael (external author)
  •   Hoffmann, Per (external author)
  •   Rujescu, Dan (external author)
  •   Maier, Wolfgang (external author)
  •   Cichon, Sven (external author)
  •   Rietschel, Marcella (external author)
  •   Nothen, Marcus M. (external author)

Publication Date


  • 2016

Citation


  • Degenhardt, F., Heinemann, B., Strohmaier, J., Pfohl, M. A., Giegling, I., Hofman, A., Ludwig, K. U., Witt, S. H., Ludwig, M., Forstner, A. J., Albus, M., Schwab, S. G., Borrmann-Hassenbach, M., Lennertz, L., Wagner, M., Hoffmann, P., Rujescu, D., Maier, W., Cichon, S., Rietschel, M. & Nothen, M. M. (2016). Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatric Genetics, 26 (6), 293-296.

Scopus Eid


  • 2-s2.0-84988729980

Ro Full-text Url


  • https://ro.uow.edu.au/cgi/viewcontent.cgi?article=2321&context=ihmri

Ro Metadata Url


  • http://ro.uow.edu.au/ihmri/1294

Number Of Pages


  • 3

Start Page


  • 293

End Page


  • 296

Volume


  • 26

Issue


  • 6

Place Of Publication


  • United States

Abstract


  • Duplications in 16p11.2 are a risk factor for schizophrenia

    (SCZ). Using genetically modified zebrafish, Golzio and

    colleagues identified KCTD13 within 16p11.2 as a major

    driver of the neuropsychiatric phenotype observed in

    humans. The aims of the present study were to explore the

    role of KCTD13 in the development of SCZ and to provide a

    more complete picture of the allelic architecture at this risk

    locus. The exons of KCTD13 were sequenced in 576

    patients. The mutations c.6G>T and c.598G>A were

    identified in one patient each. Both mutations were

    predicted to be functionally relevant and were absent from

    the 1000 Genomes Project data and the Exome Variant

    Server. The mutation c.6G>T was predicted to abolish a

    potential transcription factor-binding site for specifity

    protein 1. Altered specifity protein 1 expression has been

    reported in SCZ patients compared with controls. Further

    studies in large cohorts are warranted to determine the

    relevance of the two identified mutations.

UOW Authors


  •   Degenhardt, Franziska (external author)
  •   Heinemann, Barbara (external author)
  •   Strohmaier, Jana (external author)
  •   Pfohl, Marvin A. (external author)
  •   Giegling, Ina (external author)
  •   Hofman, Andrea (external author)
  •   Ludwig, Kerstin U. (external author)
  •   Witt, Stephanie H. (external author)
  •   Ludwig, Michael (external author)
  •   Forstner, Andreas J. (external author)
  •   Albus, Margot (external author)
  •   Schwab, Sibylle
  •   Borrmann-Hassenbach, Margitta (external author)
  •   Lennertz, Leonhard (external author)
  •   Wagner, Michael (external author)
  •   Hoffmann, Per (external author)
  •   Rujescu, Dan (external author)
  •   Maier, Wolfgang (external author)
  •   Cichon, Sven (external author)
  •   Rietschel, Marcella (external author)
  •   Nothen, Marcus M. (external author)

Publication Date


  • 2016

Citation


  • Degenhardt, F., Heinemann, B., Strohmaier, J., Pfohl, M. A., Giegling, I., Hofman, A., Ludwig, K. U., Witt, S. H., Ludwig, M., Forstner, A. J., Albus, M., Schwab, S. G., Borrmann-Hassenbach, M., Lennertz, L., Wagner, M., Hoffmann, P., Rujescu, D., Maier, W., Cichon, S., Rietschel, M. & Nothen, M. M. (2016). Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatric Genetics, 26 (6), 293-296.

Scopus Eid


  • 2-s2.0-84988729980

Ro Full-text Url


  • https://ro.uow.edu.au/cgi/viewcontent.cgi?article=2321&context=ihmri

Ro Metadata Url


  • http://ro.uow.edu.au/ihmri/1294

Number Of Pages


  • 3

Start Page


  • 293

End Page


  • 296

Volume


  • 26

Issue


  • 6

Place Of Publication


  • United States