ArticleEuropean journal of medical genetics2012
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.
Article in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- LAR Receptor Tyrosine Phosphatase Family in Healthy and Diseased Brain.Frontiers in cell and developmental biology · 2021Review
- Current Understanding of the Role of Neuronal Calcium Sensor 1 in Neurological Disorders.Molecular neurobiology · 2019Review
- Immunoglobulin-Like Receptors and Their Impact on Wiring of Brain Synapses.Annual review of genetics · 2018Review
- Loss of SETDB1 decompacts the inactive X chromosome in part through reactivation of an enhancer in the IL1RAPL1 gene.Epigenetics & chromatin · 2018Article
- The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis.Molecular medicine reports · 2017Article
- Preliminary assessment of pre-morbid DNA methylation in individuals at high genetic risk of mood disorders.Bipolar disorders · 2016Article
- Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Human molecular genetics · 2015Article
- IL1RAPL1 knockout mice show spine density decrease, learning deficiency, hyperactivity and reduced anxiety-like behaviours.Scientific reports · 2014Article
- Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.Children (Basel, Switzerland) · 2014Article
- Article
- Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.Journal of Korean medical science · 2013Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. 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. IL1RAPL1 is highly expressed in the postnatal brain, specifically hippocampus suggesting a specialized role in memory and learning abilities. The proband presented with intellectual disability, a broad face, prominent and wide nasal root, ptosis, a wide philtrum and a small mouth. 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. Additional reports are needed to further characterize whether syndromic features are related to disturbances of this gene.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.