Supravalvular Aortic Stenosis

Williams, J. C. P.; Barratt‐Boyes, B. G.; Lowe, James B.

doi:10.1161/01.cir.24.6.1311

Cited by 932 publications

(379 citation statements)

References 14 publications

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“…1 People with WS have an unusual pattern of abilities (Williams Syndrome Cognitive Profile, WSCP), which include relatively good verbal abilities but deficient visuo-spatial abilities, [2][3][4][5] and characteristic personality traits. 6,7 Physically, there is growth retardation, a dysmorphic face, heart abnormalities (typically supravalvular aortic stenosis, SVAS), and sometimes severe infantile hypercalcaemia and hyperacusis.…”

Section: Introductionmentioning

confidence: 99%

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

et al. 1999

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Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4 MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.

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Section: Introductionmentioning

confidence: 99%

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

et al. 1999

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“…Williams syndrome (WS) is a well defined developmental disorder that is characterized by distinctive facial features, growth deficiency, mental retardation, a gregarious personality, congenital heart defects (particularly supravalvular aortic stenosis [SVAS] with or without peripheral pulmonary stenosis), and hypercalcemia of early infancy (Williams et al 1961, Beuren et al 1962, Morris et al 1988. Generally, seizures are not associated with WS.…”

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

et al. 1998

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Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.

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“…It gives rise to specific physical, behavioural and cognitive abnormalities, page 10 together with structural, chemical and functional anomalies in the developing brain (Bellugi, Wang & Jernigan, 1994;Grice et al, 2001;Mervis, Morris, Bertrand & Robinson, 1999;Rae, Karmiloff-Smith, Lee, Dixon, Grant, Blamire, Thompson, Styles & Radda, 1998). The syndrome was initially reported by cardiologists (Beuren, Apitz & Harmjanz, 1962;Williams, Barratt-Boyes & Lowe, 1961) (Black & Bonham-Carter, 1963). …”

Section: A Specific Example: Williams Syndromementioning

confidence: 99%

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

Karmiloff‐Smith

Thomas

2003

Dev Psychopathol

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The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules. Such arguments have particularly been marshalled with respect to language. We challenge this direct generalisation from adult phenotypic outcomes to genetic specification, and consider instead how genetic disorders provide clues to the constraints on plasticity that shape the outcome of development. We specifically examine behavioural studies, brain imaging and computational modelling of language in Williams syndrome, but contend that our theoretical arguments apply equally to other cognitive domains and other developmental disorders. While acknowledging that selective deficits in normal adult patients might justify claims about cognitive modularity, we question whether similar, seemingly selective deficits found in genetic disorders can be used to argue that such cognitive modules are pre-specified in infant brains. Cognitive modules are, in our view, the outcome of development, not its starting point. We note that most work on genetic disorders ignores one vital factor: the actual process of ontogenetic development, and argue that it is vital to view genetic disorders as proceeding under different neurocomputational constraints, not as demonstrations of static modularity.

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Supravalvular Aortic Stenosis

Cited by 932 publications

References 14 publications

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

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