Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

Michaelis, Ron C.; Skinner, Steven A.; Deason, Rusty; Skinner, Cindy; Moore, C. Lynn; Phelan, Mary C.

doi:10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f

Cited by 23 publications

(16 citation statements)

References 71 publications

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“…Among previous identified chromosomal aberrations in HSCR patients, chromosome 10q21.2 and 20p11.22-p11.23 regions 4,6 were confirmed in this study as follows: (1) The LOH frequency of chromosomal 10q21.2 region (including ANK3, ARID5B, C10orf107, CDK1, RHOBTB1, and TMEM26) was higher in HSCR cases (2.4%) than in controls (0.2%) with a nominal association (P 5 0.04, Table III), and (2) a large-scale aberration of chromosomal 20p11.23-p11.21 region appeared unique to HSCR cases (Supplementary Table III). Chromosomal 15q11.2 region, which was identified as a large and rare CNV in another genome-wide copy number analysis for HSCR, 8 was also confirmed to have a lower frequency of CNV in the HSCR case group (0.8%, P 5 0.04) than in the control group (5.1%), as shown in Table II.…”

Section: Discussionsupporting

confidence: 76%

“…2 Previous studies have identified several chromosomal aberrations (e.g., 2q22, 10q11.2/q21.2, distal 13q, 20p11.22-p11.23) associated with HSCR. [3][4][5][6] In addition, a recent study examined 67 HSCR-related markers, including 11 previously known neuro-developmental genes, and identified copy number variants (CNVs) at 3 loci of MAPK10, ZFHX1B, and SOX2. 7 Even more recently, a genome-wide copy number analysis in a Chinese population discovered neuregulin 3 (NRG3), located on 10q23.1, to be a contributing structural variant.…”

Section: Introductionmentioning

confidence: 99%

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A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

Bae

Koh

Cheong

et al. 2016

Translational Research

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Section: Discussionsupporting

confidence: 76%

Section: Introductionmentioning

confidence: 99%

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

Bae

Koh

Cheong

et al. 2016

Translational Research

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“…According our results using the same data set, this linkage is supported by paternal transmission. Deletions of the 20pter region have been reported in two distinct autism cases [41], [42]. The first patient presented an interstitial deletion in 20p11.22-p11.23 whereas the second, a 3-year-old boy with a moderate to severe mental retardation and autistic behavior patterns, carried a deletion at 20pter-p12.2.…”

Section: Resultsmentioning

confidence: 99%

Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs

et al. 2010

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BackgroundAutism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association.Methods and FindingsWe have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LODGH = 3.79, empirical p<0.005 and LODAspex = 2.96, p = 0.008), 15 (LODGH = 3.09, empirical p<0.005 and LODAspex = 3.62, empirical p = 0.003) and 20 (LODGH = 3.36, empirical p<0.005 and LODAspex = 3.38, empirical p = 0.006).ConclusionsThese regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.

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“…Deletions of the short arm of chromosome 20 are a relatively rare chromosome abnormality, with less than 35 such patients reported in the literature (Anad, et al, 1990; Byrne, et al, 1986; Dutta, et al, 1991; Garcia-Cruz, et al, 1985; Garcia-Heras, et al, 2005; Kiss and Osztovics, 1988; Krantz, et al, 1997; Laufer-Cahana, et al, 2002; Legius, et al, 1990; Li, et al, 1996; Michaelis, et al, 1997; Oda, et al, 2000; Rand, et al, 1995; Rovet, et al, 1995; Sauter, et al, 2003; Schnittger, et al, 1989; Shohat, et al, 1991; Silengo, et al, 1988; Spinner, et al, 1994; Teebi, et al, 1992; Zhang, et al, 1990). The observation that multiple patients with deletions of 20p12 had the autosomal dominant disorder Alagille syndrome (AGS; MIM# 118450), led to the positional cloning of the AGS disease gene, Jagged1 ( JAG1 ; MIM# 601920) (Li, et al, 1997; Oda, et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

et al. 2009

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The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and 5 relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to 1) more accurately determine the deletion sizes, 2) identify and compare breakpoints, 3) establish genotype/phenotype correlations and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95kb to 14.62Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95kb and 4Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome. The proximal and distal boundaries of these eleven deletions constitute a 5.4MB region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1 associated critical region, in which deletions do not confer findings other than those associated with Alagille syndrome. The other 10 patients had deletions between 3.28Mb and 14.62Mb, which extended outside the critical region, and notably, all of these patients, had developmental delay. This group had other findings such as autism, scoliosis and bifid uvula. We identified 47 additional polymorphic genome-wide copy number variants (>20 SNPs), with 0-5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities.

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Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

Cited by 23 publications

References 71 publications

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

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