Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

American journal of human genetics - 1 Dec 2009

Mochida Ganeshwaran H, Mahajnah Muhammad, Hill Anthony D, Basel-Vanagaite Lina, Gleason Danielle, Hill R Sean, Bodell Adria, Crosier Moira, Straussberg Rachel, Walsh Christopher A

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Consanguinity
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Intercellular Signaling Peptides and Proteins

Share to Microcephaly

Share to Mitosis

Share to Neurons

Share to NF-kappa B

Source

Open in PubMed Open full text

Identifiers

PMID: 20004763
DOI: 10.1016/j.ajhg.2009.10.027
PMCID: PMC2790576

Genes

TRAPPC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.PMID 20004763Read ↗

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.Semantic proximity Read ↗

Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.Semantic proximity Read ↗

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.Semantic proximity Read ↗

Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian familySemantic proximity Read ↗

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.Semantic proximity Read ↗

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.Semantic proximity Read ↗

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.Semantic proximity Read ↗

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.Semantic proximity Read ↗

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.Semantic proximity Read ↗

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.Semantic proximity Read ↗

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.