ArticleHuman genetics2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 71 citations in OpenAlex.
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- X-linked variations inJournal of medical genetics · 2023Article
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- Editorial: Sub-molecular mechanism of genetic epilepsy.Frontiers in molecular neuroscience · 2022Article
- Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.Journal of nephrology · 2021Article
- Deciphering the complexity of simple chromosomal insertions by genome sequencing.Human genetics · 2021Article
- Overexpression of Shrm4 promotes proliferation and differentiation of neural stem cells through activation of GABA signaling pathway.Molecular and cellular biochemistry · 2020Article
- Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.BMC medical genomics · 2019Article
- Epilepsy and intellectual disability linked protein Shrm4 interaction with GABANature communications · 2017Article
- Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.PloS one · 2017Article
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Human mutation · 2016Article
- Targeted inhibition of the Shroom3-Rho kinase protein-protein interaction circumvents Nogo66 to promote axon outgrowth.BMC neuroscience · 2015Article
- Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.Molecular cytogenetics · 2015Article
- Gene targeting study reveals unexpected expression of brain-expressed X-linked 2 in endocrine and tissue stem/progenitor cells in mice.The Journal of biological chemistry · 2014Article
- The interaction between Shroom3 and Rho-kinase is required for neural tube morphogenesis in mice.Biology open · 2014Article
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Authors and funding
18 authors at 12 institutions in 8 countries.
Funding
Abstract
The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition. Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt the novel human KIAA1202 (hKIAA1202) gene in both cases. We also identified a missense exchange in this gene, segregating with the Stocco dos Santos XLMR syndrome in a large four-generation pedigree but absent in >1,000 control X-chromosomes. Among other phenotypic characteristics, the affected males in this family present with severe MR, delayed or no speech, seizures and hyperactivity. Molecular studies of hKIAA1202 determined its genomic organisation, its expression throughout the brain and the regulation of expression of its mouse homologue during development. Transient expression of the wild-type KIAA1202 protein in HeLa cells showed partial colocalisation with the F-actin based cytoskeleton. On the basis of its domain structure, we argue that hKIAA1202 is a new member of the APX/Shroom protein family. Members of this family contain a PDZ and two ASD domains of unknown function and have been shown to localise at the cytoskeleton, and play a role in neurulation, cellular architecture, actin remodelling and ion channel function. Our results suggest that hKIAA1202 may be important in cognitive function and/or development.
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