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Article

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

European journal of medical genetics - 1 Dec 2012

Kakar Naseebullah, Goebel Ingrid, Daud Shakeela, Nürnberg Gudrun, Agha Noor, Ahmad Adeel, Nürnberg Peter, Kubisch Christian, Ahmad Jamil, Borck Guntram

Abstract excerpt

Autosomal recessive intellectual disability is believed to be particularly prevalent in highly consanguineous populations and genetic isolates and may account for a quarter of all non-syndromic cases. Mutations in more than 50 genes have been reported to be involved in autosomal recessive intellectual disability, including TRAPPC9 (MIM 611966), mutations of which have been identified in six families from...

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Identifiers

PMID: 22989526
DOI: 10.1016/j.ejmg.2012.08.010

Genes

TRAPPC9

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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.PMID 22989526Read ↗

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

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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 ↗

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

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

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.Semantic proximity Read ↗

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