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2013-06-01 2011-09-21 2021-02-16 2018-08-13 2017-07-12 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. IL1RAPL1_ENST00000302196 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, IL1RAPL1_ENST00000302196 Genome Browser, IL1RAPL1_ENST00000302196 References IL1RAPL1_ENST00000302196 - Explore an overview of IL1RAPL1_ENST00000302196, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any … 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 The gene produces a 79969 Da protein composed of 696 amino acids. The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. Diseases such as Mental Retardation, X-Linked 21, and Non-Syndromic X-Linked Intellectual Disability are associated with IL1RAPL1.

Il1rapl1 gene deletion

As highlighted above, X-linked AHC was originally characterized as part of a contiguous gene deletion syndrome together with GKD and DMD (centromeric) or developmental delay (IL1RAPL1, telomeric). 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 IL1RAPL1 may also be deleted in families with a contiguous gene deletion syndrome that includes MR, adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. For patients with suspected XLMR 21, sequence analysis is recommended as the first step in mutation identification. We originally identified the IL1RAPL1 gene through its partial deletion in a patient with Becker muscular dystrophy (BMD), glycerol kinase deficiency (GKD), adrenal hypoplasia congenita (AHC), and mild mental retardation,1 and suggested that its disruption might account for the patient’s cognitive problems. Other workers have shown that intragenic mutations of the IL1RAPL1 gene are We report a family with an apparent XLID pattern with the proband, his mother and maternal half brother having an Xp21.3 deletion detected with chromosomal microarray analysis involving the interleukin 1 receptor accessory protein-like 1 (IL1RAPL1) gene.

American Journal of Medical Genetics Part A, 2011.

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Aug 25, 2016 avec une mutation dans il1rapl1 proviennent du déséquilibre de la homozygous deletion with breakpoints in PTPRD gene in a patient with ID May 19, 2017 3 deletion detected with chromosomal microarray analysis involving the interleukin 1 receptor accessory protein-like 1 (IL1RAPL1) gene. IL1RAPL1 gene encodes for a member of the interleukin.

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In the second family, there were 5 affected males, but only 2 brothers were described in detail. Both had moderate intellectual disability and seizures. 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.

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. [Erin L Youngs, Rebecca Henkhaus, Jessica A Hellings, Merlin G Butler] PMID 21933724 . Abstract Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. 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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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. In the second family, there were 5 affected males, but only 2 brothers were described in detail. Both had moderate intellectual disability and seizures. 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).

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. 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. 2018-08-13 · IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.
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Extent of the deletion/duplication should be specified using the genomic Conclusions: The IL1RAPL1 gene is located on Xp21.2-p21.3 and codes a synaptic adhesion protein involved in neuronal differentiation and synapse localization, stabilization, and maturation. 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 Deletions and mutations in this gene were found in patients with mental retardation. 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.

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 Deletions and mutations in this gene were found in patients with mental retardation. 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.
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Deletions and mutations in this gene were found in patients with intellectual disability. Deletions and mutations in this gene were found in patients with mental retardation. 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. [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).

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Youngs EL, Henkhaus R, Hellings JA, Butler MG. Eur J Med Genet, 55(1):32-36, 10 Sep 2011 Cited by: 16 articles | PMID: 21933724 | PMCID: PMC5438265. Free to read 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.