Regular ArticleDelineation 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
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Elastin-driven genetic diseases
2018, Matrix BiologyCitation Excerpt :These findings suggest that loss of one functional copy of the elastin gene and decreased elastin protein production may contribute to the SVAS phenotype. The most common genetic alterations affecting the elastin gene, however, are large deletions that remove one copy of ELN in addition to the neighboring 25–27 genes as part of the recurrent microdeletion disorder Williams-Beuren syndrome (WBS) [53–55]. Patients with WBS have vascular features similar to SVAS, but have additional phenotypes owing to the loss of other genes in the deletion [56–61].
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and digeorge syndromes
2013, American Journal of Human GeneticsCitation Excerpt :A strong maternal bias exists for the NF1 deletion, but studies were small in size.27,28 For Williams Beuren syndrome (WBS [MIM 194050]), which results from NAHR events between flanking LCRs, or SDs, in chromosomal region 7q11.23, we performed a meta-analysis on existing data29–33 and found no gender bias of origin for the 7q11.23 deletion among 471 probands: 248 (53%) were of maternal origin and 223 (47%) were of paternal origin (two-tailed p = 0.27). There is, however, an important confounding feature for WBS in that the presence of an inversion polymorphism32 greatly increases risk of meiotic NAHR events.34–36
Aetiology of congenital cardiac disease
2010, Paediatric CardiologyAetiology of Congenital Cardiac Disease
2009, Paediatric CardiologyMutational mechanisms of williams-beuren syndrome deletions
2003, American Journal of Human GeneticsCitation Excerpt :Dinucleotide repeats located in the intergenic region between GTF2I/GTF2IP1/GTF2IP2 and NCF1/NCF1P1/NCF1P2 (BBSTR1) and intron 3 of the GTF2IRD2/GTF2IRD2P1/GTF2IRD2P2 gene (BBSTR2) identify six alleles in control individuals, two from each of the block B copies (fig. 1). The microsatellite marker AFM136xe3 (BASTR1) identifies a locus within the commonly deleted region (D7S489B) and three additional loci, each located in one of the block A copies (D7S489A, D7S489Cc, and D7S489Ct) (fig. 1) (Pérez Jurado et al. 1996; Robinson et al. 1996). The vast majority of patients (70 of 74) displayed only five block B alleles with BBSTR1 and BBSTR2 but the normal six alleles from block A, indicating that the deletion was caused by recombination between blocks Bc and Bm (figs. 1 and 2a).
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