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Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion


Robinson, Wendy P; Waslynka, J; Bernasconi, F; Wang, M; Clark, S; Kotzot, Dieter; Schinzel, Albert (1996). Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion. Genomics, 34(1):17-23.

Abstract

The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding ELN to define the extent of deletions associated with WBS. With only one exception, ELN, D7S1870, and one copy of the D7S489 locus (D7S489U) were always included in the deletions. One patient showed lack of maternal inheritance at D7S1870 and not at ELN or D7S489U. A product corresponding to D7S489U was amplified from YAC 743G6 and from the P1 clone RMC07P008, thereby localizing both to within the common deletion. The boundary of the deleted region on the proximal (centromeric) side is D7S653 and on the distal side is D7S675, neither of which were ever included in the deletion. One locus, D7S489L, was variably deleted in patients, indicating a minimum of two common breakpoints on the proximal side. At least one additional repeat amplified by D7S489 (D7S489M) was localized to a YAC contig mapping distal to the common deletion. The D7S489 sequence is highly homologous to several cDNA clones in the GenBank database and contains an Alu sequence. It is possible that this andsolidusor other repetitive sequences in this region could play a role in the mechanism of deletion.

Abstract

The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding ELN to define the extent of deletions associated with WBS. With only one exception, ELN, D7S1870, and one copy of the D7S489 locus (D7S489U) were always included in the deletions. One patient showed lack of maternal inheritance at D7S1870 and not at ELN or D7S489U. A product corresponding to D7S489U was amplified from YAC 743G6 and from the P1 clone RMC07P008, thereby localizing both to within the common deletion. The boundary of the deleted region on the proximal (centromeric) side is D7S653 and on the distal side is D7S675, neither of which were ever included in the deletion. One locus, D7S489L, was variably deleted in patients, indicating a minimum of two common breakpoints on the proximal side. At least one additional repeat amplified by D7S489 (D7S489M) was localized to a YAC contig mapping distal to the common deletion. The D7S489 sequence is highly homologous to several cDNA clones in the GenBank database and contains an Alu sequence. It is possible that this andsolidusor other repetitive sequences in this region could play a role in the mechanism of deletion.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical), Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 7, Databases, Factual, Elastin / genetics, Female, Genetic Markers, Heterozygote, Humans, Male, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Sequence Homology, Nucleic Acid, Williams Syndrome / genetics
Language:English
Date:15 May 1996
Deposited On:27 Sep 2023 17:24
Last Modified:29 Apr 2024 01:40
Publisher:Elsevier
ISSN:0888-7543
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1006/geno.1996.0237
PubMed ID:8661020
Other Identification Number:Corpus ID: 29781623