IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
| Autor: | Merlin G. Butler, Jessica A. Hellings, Erin L. Youngs, Rebecca S. Henkhaus |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Male
Proband Adolescent X-linked intellectual disability Population Biology Hippocampus Article Ptosis Intellectual disability Genetics medicine Humans Abnormalities Multiple Genetic Testing education Genetics (clinical) X chromosome Oligonucleotide Array Sequence Analysis Genetic testing Chromosomes Human X education.field_of_study medicine.diagnostic_test General Medicine medicine.disease Pedigree Fragile X syndrome Phenotype Mental Retardation X-Linked Female medicine.symptom Interleukin-1 Receptor Accessory Protein Gene Deletion |
| Zdroj: | European Journal of Medical Genetics. 55:32-36 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2011.08.004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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