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

Ss, Bhat; Ladd, Sydney; Grass, Frank S.; Spence, J. Edward; Brasington, CK; Rj, Simensen; Schwartz, CE; DuPont, BR; Stevenson, RE; Srivastava, A.K.

doi:10.1111/j.1399-0004.2007.00920.x

Cited by 47 publications

(45 citation statements)

References 11 publications

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“…Previous studies of families with IL1RAPL1 do not mention these findings [Koz ak et al, 1993;Carrie et al, 1999;Bhat et al, 2008;Nawara et al, 2008]. Nonetheless, although IL1RAPL1 is considered a non-syndromal XLID gene, affected individuals may indeed have some mild dysmorphism and minor physical findings.…”

Section: Discussionmentioning

confidence: 85%

“…However, affected males in family K8120 had other features such as impulsivity and oppositional behavior. Previously, we reported a patient with nonsyndromal XLID and autism, who had a pericentromeric inversion of the X chromosome which disrupted the IL1RAPL1 gene [Bhat et al, 2008]. Piton et al [2008] reported a large deletion of exons 3-7 (p.Ile367SerfsX6) in three brothers with autism and/or ID.…”

Section: Discussionmentioning

confidence: 98%

“…Copy number variants due to deletion and duplication mutations involving the IL1RAPL1 gene are also associated with either ID [Menten et al, 2006;Froyen et al, 2007] or ASD [Piton et al, 2008]. It has been suggested that because of the incidence of recombination mutations, such as pericentromeric inversions [Laumonnier et al, 2002;Lepretre et al, 2003;Bhat et al, 2008], the genomic region may be a hotspot for recombination events [Tabolacci et al, 2006]. Interestingly, disruption of IL1RAPL1, whether by large deletions involving the genomic region, or deletions limited to the IL1RAPL1 gene itself, can lead to ID, ASD, or both.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the zebrafish ortholog, Il1rapl1b, plays a role in presynaptic differentiation [Yoshida and Mishina, 2008]. IL1RAPL1 is involved in cognitive function [Gao et al, 2008] and loss-of-function mutations have been associated with XLID and autism and autism spectrum disorder (ASD) [Sasaki et al, 2003;Wheway et al, 2003;Tabolacci et al, 2006;Bhat et al, 2008;Piton et al, 2008]. Nawara et al [2008] identified a family with MRX and a novel mutation in IL1RAPL1 in which exons 2-5 were deleted.…”

Section: Introductionmentioning

confidence: 99%

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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Franek¹,

Butler²,

Johnson³

et al. 2011

American J of Med Genetics Pt A

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X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability. All of the published mutations predict loss of function of the protein. We have identified an additional two families with deletions of a portion of the gene that give rise to cognitive impairment, as well as some behavioral problems and mild dysmorphism. Our clinical findings better delineate the phenotypic spectrum associated with IL1RAPL1 mutations.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Franek¹,

Butler²,

Johnson³

et al. 2011

American J of Med Genetics Pt A

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“…In addition, one CNV upstream of the gene was found in an individual with ADHD, suggesting that it may play a role in this phenotype as well (Noor et al, 2010). IL1RAPL1, which was initially identified as a cause of NS-ID, and has been shown to cause NS-ID in several individuals, has also been implicated in autism (Carrie et al, 1999;Bhat et al, 2008;Marshall et al, 2008;Piton et al, 2008;Pinto et al, 2010). Similarly, a missense mutation in the NS-ID gene JARID1C was found in an individual with autism (Adegbola et al, 2008).…”

Section: Shared Genetic Causes Of Autism and Id: Non-syndromicmentioning

confidence: 99%

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

Kaufman¹,

Noor²,

Ayub³

et al. 2011

Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment

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

Behnecke

Hinderhofer

Bartsch³

et al. 2010

American J of Med Genetics Pt A

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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.

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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Cited by 47 publications

References 11 publications

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

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

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