Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

American journal of medical genetics. Part A - 1 Feb 2011

Behnecke Anne, Hinderhofer Katrin, Bartsch Oliver, Nümann Astrid, Ipach Marie-Luise, Damatova Natalja, Haaf Thomas, Dufke Andreas, Riess Olaf, Moog Ute

Abstract excerpt

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 or cytogenetic aberrations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Karyotyping

Share to Microarray Analysis

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Sequence Deletion

Source

Identifiers

PMID: 21271657
DOI: 10.1002/ajmg.a.33656

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.PMID 21271657Read ↗

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.Semantic proximity Read ↗

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.Semantic proximity Read ↗

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.Semantic proximity Read ↗

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.Semantic proximity Read ↗

Mutations in the calcium-related gene IL1RAPL1 are associated with autismSemantic proximity Read ↗

X-linked mental retardation: further lumping, splitting and emerging phenotypes.Semantic proximity Read ↗

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.Semantic proximity Read ↗

Disruption of the <i>IL1RAPL1</i> gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autismSemantic proximity Read ↗

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.Semantic proximity Read ↗

The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).Semantic proximity Read ↗

Phenotype-genotype correlation in a familial IGF1R microdeletion case.Semantic proximity Read ↗

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.