Mutations and deletions of the interleukin-1 receptor accessory protein like 1 ( IL1RAPL1 ) gene, located on the X chromosome, are associated with intellectual disability (ID) and autism spectrum disorder (ASD). IL1RAPL1 protein is located at the postsynaptic compartment of excitatory synapses and plays a role in synapse formation and stabilization. Here, using primary neuronal cultures and

The gene view histogram is a graphical view of mutations across IL1RAPL1. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.

Diseases associated with IL1RAPL1 include Mental Retardation, X-Linked 21 and Non-Syndromic X-Linked Intellectual Disability. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and interleukin-1 binding. IL1RAPL1 (interleukin‐1 receptor accessory protein‐like 1) located at Xp21.3‐22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX‐1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). In contrast, intragenic deletions of IL1RAPL1 or other mutations deletion in IL1RAPL1 gene in three brothers with ASD and/ or MR. All together, these results indicate that disruption of IL1RAPL1 has the potential of causing a wide spectrum of conditions ranging from MR to high-functioning autism. RESULTS Sequencing of the IL1RAPL1 gene and identification of de novo frameshift mutation in one as girl Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene.

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American Journal of Medical Genetics Part A, 2011. Oliver Bartsch. Anne Behnecke. A carrier maternal aunt had learning difficulties and her son with the deletion was reported to be physically and developmentally similar to the proband. Haploinsufficiency phenotype comments: In addition to the paper cited above, intragenic deletions have been reported by Franek et al (PMID: 21484992) and Nawara et al. (PMID: 19012350). IL1RAPL1 (interleukin‐1 receptor accessory protein‐like, gene 1) has recently been shown to be mutated in patients with X‐linked mental retardation.

In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation.

This deletion is predicted to cause a frameshift at alanine 28 with a premature stop codon 15 codons downstream (Ala28GlufsX15), thus truncating the majority of the IL1RAPL1 … Reports Added [Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.2007] [Mutations in the calcium-related gene IL1RAPL1 are associated with autism.2008] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [Direct measure of the de novo mutation rate in autism and Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization.

IL-1 receptor accessory protein-like 1 (IL1RAPL1) is the product of an X-linked gene responsible for a nonsyndromic form of ID. The IL1RAPL1 gene is also associated with autism spectrum disorders

Global Variome shared LOVD IL1RAPL1 (interleukin 1 receptor accessory protein-) LOVD v.3.0 Build 25e [ Current LOVD status] Register as submitter | Log in | Log in Gene name: Mutation total: Log in: IL1RAPL1: Xp22.1-p21.3: Interleukin 1 receptor accessory protein like 1: 37: If you are already a registered HGMD user, please log brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy, glycerol of the deletion for the patient's dystrophin and IL1RAPL1 genes. Nov 30, 2020 The gene encoding IL1RAPL1 is on the X chromosome, and has been found to be mutated in a number of cases of X-linked mental retardation [  We identified one family with intronic deletion of IL1RAPL1 and another case with a missense mutation in this gene, thus implicating this known intellectual  Jul 11, 2016 IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.

This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. References 2012-01-01 · IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features 1. Introduction. Intellectual disability affects approximately 2% of the population, with affected males outnumbering 2. Clinical report.
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This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by … Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene. Different nonoverlapping deletions involving IL1RAPL1 have been reported previously, suggesting that this region could be deletion-prone. In this report, we present the results of the molecular analyses and clinical Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli. IL1RAPL1 gene product.

This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. References 2012-01-01 · IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features 1. Introduction.
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Array-CGH analysis performed in our patient with intellectual disability, mild dysmorphic signs and changes in behavior identified a 285Kb deletion in chromosome Xp21.3-21.2, with breakpoints lying in IL1RAPL1 gene intron 2 and intron 3. This is the first patient reported in literature with deletion of only exon 3 of IL1RAPL1 gene.

Diseases associated with IL1RAPL1 include Mental Retardation, X-Linked 21 and Non-Syndromic X-Linked Intellectual Disability. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and interleukin-1 binding.

IL1RAPL1 (interleukin‐1 receptor accessory protein‐like, gene 1) has recently been shown to be mutated in patients with X‐linked mental retardation. Clinical experience has suggested that patients wi

Mutations of this gene have been associated with cognitive impairments ranging from non-syndromic X-linked mental retardation to autistic spectrum disorders4. Mutations and deletions of the interleukin-1 receptor accessory protein like 1 ( IL1RAPL1 ) gene, located on the X chromosome, are associated with intellectual disability (ID) and autism spectrum disorder (ASD). IL1RAPL1 protein is located at the postsynaptic compartment of excitatory synapses and plays a role in synapse formation and stabilization. Here, using primary neuronal cultures and gene IL1RAPL1, the MAGEBgene cluster, and the testis specific ferritin heavy chain gene FTHL17.A deletion of 35 kb has removed exon 52 of the dystrophin gene. The intervening 600 kb region, containing exons 53-79 of the dystrophin gene, is inverted. • This deletion-inversion-deletion results in a chimeric IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.

This is the first patient reported in literature with deletion of only exon 3 of IL1RAPL1 gene. protein, IL1RAPL1 is located at the postsynaptic densities of excitatory neuronal synapses. It is selectively expressed in the brain and plays a crucial role in cognitive develop-ment.11,12 The IL1RAPL1 gene is located on Xp21.2-p21.3, a deletion and/or mutation-prone region.13 Mutations of this gene have been associated with cognitive impairments 2011-09-21 · Genetic analysis identified a 635-kb deletion spanning exons 2-5 in the IL1RAPL1 gene (see 300206.0003), although exact deletion breakpoints were not mapped.