Cited by 152Genomic variations and chromosomal abnormalitiesGenetic Syndromes and ImprintingGenetics and Neurodevelopmental Disorders

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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

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Sahoo, Trilochan, Bacino, Carlos A, German, Jennifer R, Shaw, Chad A, Bird, Lynne M, Kimonis, Virginia, Anselm, Irinia, Waisbren, Susan, Beaudet, Arthur L, Peters, Sarika U·2007·European Journal of Human Genetics

DOI 10.1038/sj.ejhg.5201859

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Abstract

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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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: Sahoo, Trilochan
Bacino, Carlos A
Shaw, Chad A
Bird, Lynne M
Kimonis, Virginia
Waisbren, Susan
Beaudet, Arthur L
Peters, Sarika U
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2007-05-23
Volume: 15
Issue: 9
Pages: 943-949
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/sj.ejhg.5201859
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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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

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