Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

Mari, Aldo; Amati, Francesca; Mingarelli, Rita; Giannotti, Aldo; Sebastio, Gianfranco; Colloridi, V.; Novelli, Giuseppe; Dallapiccola, Bruno

doi:10.1007/bf00191804

Cited by 54 publications

(27 citation statements)

References 13 publications

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“…Participants lived with their families who gave their informed consent. The Williams--Beuren syndrome diagnoses had been established by pediatricians and confirmed by molecular analyses (homozygous deletion of the elastin gene, 7q11.2, Mari et al, 1995). Intellectual levels were obtained from psychological records of these patients (mainly on the Stanford-Binet and Wechsler scales).…”

Section: Participantsmentioning

confidence: 99%

Laterality in Persons with Intellectual Disability. I—Do Patients with Trisomy 21 and Williams–Beuren Syndrome Differ from Typically Developing Persons?

et al. 2006

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Persons with trisomy 21 (T21) and Williams-Beuren syndrome (WBS) have different brain abnormalities which may affect manual laterality. We assessed 45 persons with T21 and 34 with WBS (mean age 13) and 81 typically developing children (TD). Manual laterality was assessed with a fifteen-item task administered two times, and Bishop's card-reaching task. We found more left-handers in the T21 group compared to the other two groups. Inconsistent laterality was higher in the two groups with genetic diseases than in the TD group. For Bishop's test, both T21 and WBS participants were less right-oriented than the TD group. They displayed different response patterns in midline crossing when reaching for the cards, but did not display more midline crossing inhibition than the TD group. Is atypical handedness linked to specific genetic syndromes and, more specifically for persons with T21, to the trisomy of some of the genes?

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Section: Participantsmentioning

confidence: 99%

Laterality in Persons with Intellectual Disability. I—Do Patients with Trisomy 21 and Williams–Beuren Syndrome Differ from Typically Developing Persons?

et al. 2006

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“…After establishment of linkage between SVAS and the elastin gene (ELN) on chromosome 7 (Ewart et al 1993a), four familial and five sporadic cases of WS were described, with deletions encompassing the ELN at 7q11.23 (Ewart et al 1993b). The usefulness of ELN molecular analysis has since been confirmed in several studies of WS patients comprising a total of 368 patients (Kotzot et al 1995;Lowery et al 1995;Mari et al 1995;Nickerson et al 1995).…”

Section: Introductionmentioning

confidence: 95%

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

et al. 1996

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Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.

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“…WS is generally sporadic with an incidence of 1/20,000-1/50,000 live births, although familial cases have been reported with appar- [Curren et al, 1993;Morris et al, 1993b;Ewart et al, 1994;Olson et al, 1995;Li et al, 1997;Tassabehji et al, 1997]. Further investigations of SVAS and WS have shown that hemizygosity at the elastin locus occurs in most WS patients Keating, 1994;Borg et al, 1995;Kotzot et al, 1995;Nickerson et al, 1995;Lowery et al, 1995;Mari et al, 1995]. Elastin haploinsufficiency provides an explanation for some of the anomalies found in WS, including SVAS, and a hoarse voice and rapidly aged-appearing skin, which may occur in part because elastin is required for the normal ultrastructure in the vocal ligaments and the skin.…”

mentioning

confidence: 94%

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

et al. 1998

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Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other genes flanking ELN. In this study, we defined the minimal critical deletion region in 63 patients using 10 microsatellite markers and 5 fluorescence in situ hybridization (FISH) probes on chromosome 7q, flanking ELN. The haplotype analyses showed the deleted cases to have deletions of consistent size, as did the FISH analyses using genomic probes for the known ends of the commonly deleted region defined by the satellite markers. In all informative cases deleted at ELN, the deletion extends from D7S489U to D7S1870. The genetic distance between these two markers is about 2 cM. Of the 51 informative patients with deletions, 29 were maternal and 22 were paternal in origin. There was no evidence for effects on stature by examining gender, ethnicity, cardiac status, or parental origin of the deletion. Heteroduplex analysis for LIMK1, a candidate gene previously implicated in the WS phenotype, did not show any mutations in our WS patients not deleted for ELN. LIMK1 deletions were found in all elastin-deletion cases who had WS. One case, who has isolated, supravalvular aortic stenosis and an elastin deletion, was not deleted for LIMK1. It remains to be determined if haploinsufficiency of LIMK1 is responsible in part for the WS phenotype or is simply deleted due to its close proximity to the elastin locus.

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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

Cited by 54 publications

References 13 publications

Laterality in Persons with Intellectual Disability. I—Do Patients with Trisomy 21 and Williams–Beuren Syndrome Differ from Typically Developing Persons?

Laterality in Persons with Intellectual Disability. I—Do Patients with Trisomy 21 and Williams–Beuren Syndrome Differ from Typically Developing Persons?

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

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