期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 85, 期 6, 页码 897-902出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2009.10.027
关键词
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资金
- National Institutes of Health to The Johns Hopkins University [FIHSN268200782096C]
- NINDS [2R01NS035129-12]
- Nancy Lurie Marks Family Foundation
- Dubai Harvard Foundation for Medical Research
- Simons Foundation
- Manton Center for Orphan Disease Research
- Young Investigator Award of NARSAD as a NARSAD Lieber Investigator
- Investigator of the Howard Hughes Medical Institute
- MRC [G9900837, G0700089] Funding Source: UKRI
- Medical Research Council [G0700089, G9900837] Funding Source: researchfish
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.
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