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A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Lookup NU author(s): Moira Crosier


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Although autosomal genes are increasingly recognized as important causes of intellectual disability, very few of them are known. We identified a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with variable postnatal microcephaly through homozygosity mapping of a consanguineous Israeli Arab family. Sequence analysis of genes in the candidate interval identified a nonsense nucleotide change in the gene that encodes TRAPPC9 (trafficking protein particle complex 9, also known as NIBP), which has been implicated in NF-kappa B activation and possibly in intracellular protein trafficking. TRAPPC9 is highly expressed in the postmitotic neurons of the cerebral cortex, and MRI analysis of affected patients shows defects in axonal connectivity. This suggests essential roles of TRAPPC9 in human brain development, possibly through its effect on NF-kappa B activation and protein trafficking in the postmitotic neurons of the cerebral cortex.

Publication metadata

Author(s): Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2009

Volume: 85

Issue: 6

Pages: 897-902

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1016/j.ajhg.2009.10.027


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Funder referenceFunder name
Dubai Harvard Foundation for Medical Research
Investigator of the Howard Hughes Medical Institute
Manton Center for Orphan Disease Research
Nancy Lurie Marks Family Foundation
Simons Foundation
Young Investigator Award of NARSAD as a NARSAD Lieber Investigator
FIHSN268200782096CNational Institutes of Health to The Johns Hopkins University