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.

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 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). 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.

Il1rapl1 gene deletion

[provided by RefSeq, Jul 2008]. 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. Eur J Med Genet. 2012; 55: 32-36. View in Aug 13, 2018 within the 3′ end of the IL1RAPL1 gene that is part of a common chromosome fragile site that is frequently deleted or rearranged in patients patients with deletions involving DAX1, but not DMD, had MR if IL1RAPL1 was association of IL1RAPL1 gene deletion and MR in the majority of patients with Nov 14, 2008 Novel mutation of IL1RAPL1 gene in a nonspecific X‐linked mental retardation ( MRX) family.

brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy, glycerol of the deletion for the patient's dystrophin and IL1RAPL1 genes.

2012;55:32–6. Article PubMed Google Scholar 62. Dinopoulos A, Stefanou MI, Attilakos A, Tsirouda M, Papaevangelou V. A case of startle epilepsy associated with IL1RAPL1 gene deletion. 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.

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.

For patients with suspected XLMR 21, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations 2014-08-01 · 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.

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. 135 An Italian patient with ID, ASD, and an epilepsy episode has a 285-kb deletion in chromosome Xp21.3e21.2, with breakpoints lying in IL1RAPL1 gene exon 3. 136 An inversion in chromosome X has 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 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).
Erik santesson

This is the first patient reported in literature with deletion of only exon 3 of IL1RAPL1 gene. The gene consists of just two exons with a potential alternatively spliced exon 2, although the significance of this remains unclear.

Clinical experience has suggested that patients wi
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OMIM® : Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 2, hypoadrenocorticism, familial, 30.5, NR0B1 IL1RAPL1.

Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.

2021-02-16

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 Patients with IL1RAPL1 gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases; Strabismus; Generalized hypotonia; Not very common - Between 30% and 50% cases; Impaired use of nonverbal behaviors; Aggressive behavior; Maxillary lateral incisor microdontia; Lack of spontaneous play; Global developmental delay Abstract 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 2008-09-18 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. 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.