Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

You may be eligible if

• We will recruit individuals with WS, SVAS or SVAS-like conditions, individuals with variation in WS genes other than ELN and unaffected family members or unrelated controls
• Children or adults participating in this study as part of the WS group must:
• be between the ages of 0 and 85
• have a presumed or confirmed diagnosis of WS (typical or atypical deletions overlapping the WS region are acceptable, as are clinical diagnoses made by a physician familiar with WS) have a parent/guardian available to provide consent and assist in answering medical questions
• Children or adults participating in the study as part of the SVAS/SVAS-like group must:
• be between the ages of 0 and 85
• have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or of an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance).
• Have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)
• Children or adults with WS region gene changes (variation affecting one or more WS region genes):
• be between the ages of 0 and 85
• have clinical or research genetic testing that reports gene variation in one or more genes in the WS region (ELN variants alone will be considered in the SVAS category but other changes to the region that include ELN plus other genes may be grouped in this category).
• Have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor or if they have cognitive impairment that would impede their ability to consent on their own behalf.
• Children or adults serving as unaffected family members or adult unrelated controls must:
• family members be between the ages of one month old and 85 years old
• unrelated controls be between the ages 18 and 85 years old
• not carry a diagnosis of WS, SVAS, an SVAS-like condition or a known (at the time of enrollment) WS gene region variant.
• In some cases, an individual may appear to be unaffected, but upon genetic testing may be found to be an asymptomatic carrier for gene variant. If that happens, they will be transferred to the appropriate affected research group.
• The eligible age range for unaffected family members participating in this study includes all family members from one month onwards. This inclusive approach is undertaken to comprehensively grasp the affected status across all family members, avoiding any form of age-based discrimination. Understanding that certain cases may not exhibit phenotypic indications of affected status at a young age, it becomes crucial to gather early health characteristics of individuals who may initially appear unaffected but later manifest disease findings. Participation in research, as previously noted, has a potential to identify people at risk who were previously thought to be healthy.