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

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 +2 more·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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  • Individuals with the larger typical 15q11-q13 type I deletion in Prader-Willi and Angelman syndromes have more severe neurodevelopmental symptoms than those with the smaller typical type II deletion.

    “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]

    The Introduction and Discussion report that children with Angelman syndrome and larger class I deletions had greater cognitive and behavioral impairment than those with class II deletions. The paper identifies these as common AS/PWS deletion types, but the cited comparison of neurodevelopmental symptoms concerns Angelman syndrome; it does not establish the same comparison for Prader-Willi syndrome. (LLM, conf=0.86)

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  • 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.

    “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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Research works printed but not linked: 3

  1. Bayley N: Bayley Scales of Infant Development -Second Edition. San Antonio, San Antonio: Psychological Corporation, 1993.
  2. Sparrow SS, Balla DA, Cicchetti DV: Vineland Adaptive Behavior Scales, Interview Edition: Survey Form Manual. Circle Pines, MN: American Guidance Service, 1984.
  3. Zimmerman IL, Steiner VG, Pond RE: Preschool Language Scale -Third Edition. San Antonio: Psychological Corporation, 1992.

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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
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
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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