2021-04-07 · The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy.

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 such as Mental Retardation, X-Linked 21, and Non-Syndromic X-Linked Intellectual Disability are associated with IL1RAPL1. The genomic deletion observed in patient II-3 thus results in the deletion of exons 3 to 7 of the IL1RAPL1 gene ( Figure 5e). 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. Description: interleukin 1 receptor accessory protein like 1 (from HGNC IL1RAPL1) RefSeq Summary (NM_014271): The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL Recombinant Human IL1RAPL1 Protein (Met1-Leu354) 10177-H08H with a fusion His Tag, is expressed in HEK293 Cells. With high purity, high biological activity, high stability, and other superior features, you can use this Human IL1RAPL1 protein for relevant bioassay and related research.

RESULTS Sequencing of the IL1RAPL1 gene and identiﬁcation of de novo frameshift mutation in one as girl 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). 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. We also identified a large intragenic 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.

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.

All the information presented here about the IL1RAPL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine. Presumably the MR was due to altered central nervous system expression of dystrophin and/or glycerol kinase (Dipple et al., 2001; McCabe, 2001).

Jul 11, 2016 IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet. 2012; 55: 32-36. View in

It is selectively expressed in the brain and plays a crucial role in cognitive development11,12. The IL1RAPL1 gene is located on Xp21.2-p21.3, a deletion/mutation-prone region13. 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.

2011-09-21 Clinical test for Mental retardation 21, X-linked offered by EGL Genetic Diagnostics 2012-02-01 IL1RAPL1 (Interleukin 1 Receptor Accessory Protein Like 1) is a Protein Coding 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.
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[provided by RefSeq, Jul 2008]. To the Editor: Defects in a number of genes distributed on the human X chromosome have been associated with mental retardation (MR) and developmental delay (DD) (1–3). We have evaluated a 7-yearold boy with global DD, autism, facial dysmorphism and a pericentromeric inversion of the X chromosome.

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). It is selectively expressed in the brain and plays a crucial role in cognitive development.11, 12 The IL1RAPL1 gene is located on Xp21.2-p21.3, a deletion and/or mutation-prone region.
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Intragenic deletions of IL1RAPL1, only rarely identified, have mostly been associated with nonspecific intellectual disability (IDX) and autism spectrum disorder.

Diseases such as Mental Retardation, X-Linked 21, and Non-Syndromic X-Linked Intellectual Disability are associated with IL1RAPL1. 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.

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In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

IL1RAPL1 gene related symptoms and diseases. All the information presented here about the IL1RAPL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine. Presumably the MR was due to altered central nervous system expression of dystrophin and/or glycerol kinase (Dipple et al., 2001; McCabe, 2001). We conclude that the data are consistent with the association of IL1RAPL1 gene deletion and MR in the majority of cases of patients with cGKD examined. Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli.