---
res:
  bibo_abstract:
  - "Background: Transport protein particle (TRAPP) is a multisubunit complex that
    regulates membrane trafficking through the Golgi apparatus. The clinical phenotype
    associated with mutations in various TRAPP subunits has allowed elucidation of
    their functions in specific tissues. The role of some subunits in human disease,
    however, has not been fully established, and their functions remain uncertain.\r\n\r\nObjective:
    We aimed to expand the range of neurodevelopmental disorders associated with mutations
    in TRAPP subunits by exome sequencing of consanguineous families.\r\n\r\nMethods:
    Linkage and homozygosity mapping and candidate gene analysis were used to identify
    homozygous mutations in families. Patient fibroblasts were used to study splicing
    defect and zebrafish to model the disease.\r\n\r\nResults: We identified six individuals
    from three unrelated families with a founder homozygous splice mutation in TRAPPC6B,
    encoding a core subunit of the complex TRAPP I. Patients manifested a neurodevelopmental
    disorder characterised by microcephaly, epilepsy and autistic features, and showed
    splicing defect. Zebrafish trappc6b morphants replicated the human phenotype,
    displaying decreased head size and neuronal hyperexcitability, leading to a lower
    seizure threshold.\r\n\r\nConclusion: This study provides clinical and functional
    evidence of the role of TRAPPC6B in brain development and function.@eng"
  bibo_authorlist:
  - foaf_Person:
      foaf_givenName: Isaac
      foaf_name: Marin Valencia, Isaac
      foaf_surname: Marin Valencia
  - foaf_Person:
      foaf_givenName: Gaia
      foaf_name: Novarino, Gaia
      foaf_surname: Novarino
      foaf_workInfoHomepage: http://www.librecat.org/personId=3E57A680-F248-11E8-B48F-1D18A9856A87
    orcid: 0000-0002-7673-7178
  - foaf_Person:
      foaf_givenName: Anide
      foaf_name: Johansen, Anide
      foaf_surname: Johansen
  - foaf_Person:
      foaf_givenName: Başak
      foaf_name: Rosti, Başak
      foaf_surname: Rosti
  - foaf_Person:
      foaf_givenName: Mahmoud
      foaf_name: Issa, Mahmoud
      foaf_surname: Issa
  - foaf_Person:
      foaf_givenName: Damir
      foaf_name: Musaev, Damir
      foaf_surname: Musaev
  - foaf_Person:
      foaf_givenName: Gifty
      foaf_name: Bhat, Gifty
      foaf_surname: Bhat
  - foaf_Person:
      foaf_givenName: Eric
      foaf_name: Scott, Eric
      foaf_surname: Scott
  - foaf_Person:
      foaf_givenName: Jennifer
      foaf_name: Silhavy, Jennifer
      foaf_surname: Silhavy
  - foaf_Person:
      foaf_givenName: Valentina
      foaf_name: Stanley, Valentina
      foaf_surname: Stanley
  - foaf_Person:
      foaf_givenName: Rasim
      foaf_name: Rosti, Rasim
      foaf_surname: Rosti
  - foaf_Person:
      foaf_givenName: Jeremy
      foaf_name: Gleeson, Jeremy
      foaf_surname: Gleeson
  - foaf_Person:
      foaf_givenName: Farhad
      foaf_name: Imam, Farhad
      foaf_surname: Imam
  - foaf_Person:
      foaf_givenName: Maha
      foaf_name: Zaki, Maha
      foaf_surname: Zaki
  - foaf_Person:
      foaf_givenName: Joseph
      foaf_name: Gleeson, Joseph
      foaf_surname: Gleeson
  bibo_doi: 10.1136/jmedgenet-2017-104627
  bibo_issue: '1'
  bibo_volume: 55
  dct_date: 2018^xs_gYear
  dct_identifier:
  - UT:000418199800007
  dct_isPartOf:
  - http://id.crossref.org/issn/0022-2593
  dct_language: eng
  dct_publisher: BMJ Publishing Group@
  dct_title: A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental
    disorder characterised by microcephaly epilepsy and autistic features@
  fabio_hasPubmedId: '28626029'
...