The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations
Open accessAbstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, absent speech, ataxia, and a happy disposition. Deletions of the 15q11q13 region are found in approximately 70% of AS patients. The deletions are sub-classified into class I and class II based on their sizes of approximately 6.8 and approximately 6.0, respectively, with two different proximal breakpoints and a common distal breakpoint. Utilizing a chromosome 15-specific comparative genomic hybridization genomic microarray (array-CGH), we have identified, determined the deletion sizes, and mapped the breakpoints in a cohort of 44 cases, to relate those breakpoints to the genomic architecture and derive more precise genotype-phenotype correlations. Interestingly four patients of the 44 studied (9.1%) had novel and unusually large deletions, and are reported here. This is the first report of very large deletions of 15q11q13 resulting in AS; the largest deletion being >10.6 Mb. These novel deletions involve three different distal breakpoints, two of which have been earlier shown to be involved in the generation of isodicentric 15q chromosomes (idic15). Additionally, precise determination of the deletion breakpoints reveals the presence of directly oriented low-copy repeats (LCRs) flanking the recurrent and novel breakpoints. The LCRs are adequate in size, orientation, and homology to enable abnormal recombination events leading to deletions and duplications. This genomic organization provides evidence for a common mechanism for the generation of both common and rare deletion types. Larger deletions result in a loss of several genes outside the common Angelman syndrome-Prader-Willi syndrome (AS-PWS) critical interval, and a more severe phenotype.
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“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [9]
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“Sahoo et al. [9] reported that in individuals with Angelman syndrome and the 15q11–q13 type I deletion had significantly more behavioral and cognitive impairments with lower expressive and total language abilities and a higher likelihood of features for autism spectrum disorder.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [9]
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Cites
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Metadata
- Authors
- Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U.
- Affiliations
- Baylor College of Medicine (US)
- University of California San Diego (US)
- Harvard University (US)
- Corresponding author
- Bacino, Carlos A
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2007-05-23
- Volume
- 15
- Issue
- 9
- Pages
- 943-949
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W1964714903
- Cited by
- 152
- References
- 28
- Citations by year
- 2026: 3 · 2024: 1 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 7 · 2019: 3 · 2018: 33 · 2017: 4 · 2016: 6 · 2015: 6 · 2014: 8 · 2013: 2 · 2012: 4
- FWCI
- 3.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- March of Dimes Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Angelman syndrome, deletion breakpoints, genotype-phenotype correlation, segmental duplication, neurodevelopmental disorders, array comparative genomic hybridization
- MeSH terms
- Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Genotype, Humans, Infant, Male, Phenotype, Psychological Tests, Angelman Syndrome, Chromosome Breakage, Oligonucleotide Array Sequence Analysis
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