FISH analysis in patients with clinical diagnosis of Williams syndrome

Elçioğlu, Nursel; Mackie-Ogilvie, C; Daker, M. G.; Berry, A C

doi:10.1080/08035259850157868

Cited by 30 publications

(20 citation statements)

References 13 publications

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“…Hypoplasia of the left pulmonary artery and mild supravalvular aortic stenosis were diagnosed after birth. WS was later confirmed by fluorescence in situ hybridization (FISH) [12], which showed the loss of the maternal allele at the elastin gene locus on chromosome 7q11.23 [13]. BP was occasionally noted as being 170\110 mmHg while being treated, and he was referred to the Hypertension Clinic (Broussais Hospital, Paris, France) at the age of 21 for severe hypertension.…”

Section: Patientmentioning

confidence: 99%

Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness

Lacolley¹,

Boutouyrie²,

GLUKHOVA³

et al. 2002

Clinical Science

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A B S T R A C TAlthough the aetiology of Williams syndrome (WS) is related to elastin gene disruption, its pathogenesis remains unknown, particularly that of vascular lesions. The aim of the present study was to compare the elastic properties of three WS patients with age-and gender-matched normotensive and hypertensive controls. Common carotid arteries of WS patients had a higher distensibility, a thicker intima-media and a lower elastic modulus. Electron microscopy studies of one WS renal artery showed major abnormalities of the elastic fibres, which displayed a reticular structure and a thickening of the internal elastic lamina, whereas the ultrastructure of elastic fibres was normal in a control subadventitial muscular fibrodysplasia. In this WS arterial stenosis, we studied the expression patterns of several major smooth muscle (SM) phenotypic markers using immunofluorescence and used a normal renal artery as a control. In WS, SM-α-actin-and myosin-heavy-chain-positive cells contained low amounts of heavy caldesmon, and laminin-β1 chain was expressed into the basement membranes, indicating a less differentiated phenotype. In conclusion, in WS patients, the carotid artery wall was abnormally distensible and thick, and major ultrastructural abnormalities of elastic fibres were observed in association with smooth muscle cell de-differentiation. These results indicate that the haplo-insufficiency of the elastin gene in WS patients leads to abnormal elastic fibre assembly within the media. Arterial wall hypertrophy found with a primary defect in elastin may represent a major factor responsible for increased distensibility. We suggest that, in WS, the increased proliferative response and the associated de-differentiation process represent two important mechanisms underlying the matrix accumulation and the development of arterial stenosis."These authors contributed equally to this study.

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Section: Patientmentioning

confidence: 99%

Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness

Lacolley¹,

Boutouyrie²,

GLUKHOVA³

et al. 2002

Clinical Science

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“…3,[6][7][8][9][10][11] Because the gene encoding elastin is deleted in nearly all cases of WS, screening with a fluorescent in situ hybridization (FISH) probe for this gene deletion has become the diagnostic test of choice. 6,8,[12][13][14][15] Infantile hypercalcemia has been reported for ϳ15% of infants and children with WS. 16 The hypercalcemia in infancy usually occurs in the first years of life, resolving in most cases by 4 years of age, but it may recur during puberty.…”

mentioning

confidence: 99%

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

et al. 2004

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Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.

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“…Our patient was thought to have Williams syndrome at 4-6 weeks of age based on both clinical and laboratory findings. The diagnosis was confirmed by cytogenetic analysis of peripheral blood lymphocytes that revealed a deletion of the elastin gene on chromosome 7 [1]. The calcium homeostatic system is disturbed in patients with Williams syndrome [3].…”

Section: Discussionmentioning

confidence: 94%

“…Williams syndrome is a developmental disorder involving connective tissue and the central nervous system characterized by common features that include a dysmorphic facial appearance, heart defects, growth retardation, premature aging of skin, mental retardation, an outgoing personality, and hypercalcemia [1]. The phenotypic expression of this syndrome is quite variable, and previously caused diagnostic difficulty in many patients.…”

Section: Introductionmentioning

confidence: 99%

Rickets in an infant with Williams syndrome

Mathias

2000

Pediatric Nephrology

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Calcium homeostasis is altered in patients with Williams syndrome. We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. Fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin D-deficient formula with standard formula led to resolution of the rickets.

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FISH analysis in patients with clinical diagnosis of Williams syndrome

Cited by 30 publications

References 13 publications

Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness

Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Rickets in an infant with Williams syndrome

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