XLID due to involvement of the IL1RAPL1 gene has been reported to cause nonsyndromic XLID. We report a new family with XLID due to partial deletion of IL1RAPL1, summarize reported literature and describe similar phenotypic similarities among the affected individuals in this family and those reported in the literature proposing that deletion of IL1RAPL1 may cause syndromic XLID.
Apr 29, 2020 This Ptprd deletion led to gene dosage‐dependent decreases in PTPδ protein in immunoblot analyses of whole‐brain lysates using PTPδ
IL1RAPL1 gene product. IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2. The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. Deletions and mutations in this gene were found in patients with intellectual disability.
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. Clinical report. The proband was second child born to non-consanguinous parents 2021-03-02 · IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.
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.
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
Micro-deletions or point mutations in this Recombinant Human IL1RAPL1 Protein (Met1-Leu354) 10177-H02H with a fusion IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome. Lissencephaly type 1 due to doublecortin gene mutation Accreditation Diagnosis of X-linked non-syndromic intellectual disability (IL1RAPL1 gene).
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].
This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. 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. 13 Mutations of this gene have been associated with cognitive impairments ranging from nonsyndromic X-linked mental retardation to autistic spectrum disorders.
The patient was a full-term infant born to a 25-year-old female with mild MR (Fig. 1a). At …
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. View IL1RAPL1 gene homepage; View graphs about the IL1RAPL1 gene database; View all transcripts; View all transcripts of gene c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. 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.
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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.
Clinical test for Mental retardation 21, X-linked offered by EGL Genetic Diagnostics
Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene.
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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.
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. The patient was a full-term infant born to a 25-year-old female with mild MR (Fig. 1a). At … 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. View IL1RAPL1 gene homepage; View graphs about the IL1RAPL1 gene database; View all transcripts; View all transcripts of gene c.123_145del, c.123_126dup.