ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2011
Mutations in the TSGA14 gene in families with autism spectrum disorders.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.Molecular psychiatry · 2026Article
- Patterns of cilia gene dysregulations in major psychiatric disorders.Progress in neuro-psychopharmacology & biological psychiatry · 2021Article
- Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.Translational psychiatry · 2019Article
- ADAM10 and γ-secretase regulate sensory regeneration in the avian vestibular organs.Developmental biology · 2017Article
- Language Impairment Resulting from a de novo Deletion of 7q32.1q33.Molecular syndromology · 2016Article
- CEP proteins: the knights of centrosome dynasty.Protoplasma · 2013Review
- A near-infrared fluorophore for live-cell super-resolution microscopy of cellular proteins.Nature chemistry · 2013Article
- Proteomic analysis of mammalian primary cilia.Current biology : CB · 2012Article
- Analysis of the toxicogenomic effects of exposure to persistent organic pollutants (POPs) in Slovakian girls: correlations between gene expression and disease risk.Environment international · 2012Article
- Evidence for involvement of GNB1L in autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2012Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants in the TSGA14 gene, which encodes a centrosomal protein. Two variants were missense mutations (c.664C>G; p.P206A and c.766T>G; p.C240G) that changed conserved residues in the same protein domain; the third variant (c.192+5G>A) altered splicing, which resulted in a protein with an internal deletion of 16 residues and a G33D substitution. These rare TSGA14 variants are enriched in the affected subjects (6/348 patients versus 2/670 controls, Fisher's exact two tailed P = 0.022). This is the first report of a possible link of a gene with a centrosomal function with familial autism.
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