Document Detail


Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
MedLine Citation:
PMID:  21271657     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 affecting IL1RAPL1 have only rarely been identified. Up to date, they have mostly been associated with nonspecific mental retardation (MRX). We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5). Deletions were identified by microarray-based chromosome analysis and confirmed by multiplex PCR and FISH, respectively. These data, along with recent functional studies indicating its role in neuronal development, provide further evidence for the relevance of IL1RAPL1 in the pathogenesis of X-linked MR and add knowledge to the phenotypic spectrum of IL1RAPL1 mutations.
Authors:
Anne Behnecke; Katrin Hinderhofer; Oliver Bartsch; Astrid Nümann; Marie-Luise Ipach; Natalja Damatova; Thomas Haaf; Andreas Dufke; Olaf Riess; Ute Moog
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2010-10-28
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-28     Completed Date:  2011-05-20     Revised Date:  2011-06-07    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  372-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Affiliation:
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. anne.behnecke@med.uni-heidelberg.de
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Humans
In Situ Hybridization, Fluorescence
Interleukin-1 Receptor Accessory Protein / genetics*
Karyotyping
Male
Mental Retardation / genetics*
Microarray Analysis
Pedigree
Phenotype*
Polymerase Chain Reaction
Sequence Deletion / genetics*
Chemical
Reg. No./Substance:
0/IL1RAPL1 protein, human; 0/Interleukin-1 Receptor Accessory Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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