WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype

Inclusion Criteria

- INCLUSION CRITERIA:

For WAGR/11p deletion subjects:

1. Diagnosis of WAGR/11p deletion confirmed by prior genetic testing or clinical history
consistent with WAGR syndrome (Wilms Tumor and/or genitourinary anomalies plus
aniridia). Genetic diagnosis will be confirmed at the NIH, if not done previously

2. Age greater than or equal to 2 years old (Subjects age 2-6y will only have an
outpatient evaluation, one 60 mL (or 5 mL/kg if weight < 12 kg) blood draw, eye
examination, and cognitive, behavioral, and psychiatric assessment performed;
subjects age 6y and older will participate in full protocol)

3. Medically stable (so that the patient can safely undergo planned testing); if history
of Wilms tumor, must be > 6 months since completion of chemotherapy and must be
considered in remission by primary oncologist caring for the patient

For parents of WAGR/11p deletion subjects:

a)Biological parent of child with WAGR/11p deletion able to give consent for self
participation

For healthy control subjects:

1. Age greater than or eqaul to 2 years old (Subjects age 2-6y will only have an
outpatient evaluation, one 60 mL (or 5 mL/kg if weight < 12 kg) blood draw, and
cognitive, behavioral, and psychiatric assessment performed; subjects age 6y and
older will participate in full protocol)

2. No chronic medications. Use of as-needed and over-the-counter medications will be
reviewed on a case-by-case basis by the Principal Investigator

3. No chronic medical or psychiatric conditions anticipated to affect results or impede
study participation

For aniridia subjects:

1. Diagnosis of aniridia confirmed by ophthalmologist

2. Age greater than or eqaul to 2 years old (Subjects age 2-6y will only have an
outpatient evaluation, one 60 mL (or 5 mL/kg if weight < 12 kg) blood draw, eye
examination, and cognitive, behavioral, and psychiatric assessment performed;
subjects age 6y and older will participate in full protocol)

3. Medically stable, with no chronic medical or psychiatric conditions anticipated to
affect results or impede study participation

EXCLUSION CRITERIA:

For WAGR/11p deletion subjects:

1. Anorexiant use in preceding 6 months

2. Greater than 2% body weight loss in preceding 6 months

3. Pregnancy

4. Individuals who have, or whose parent or guardians have, current substance abuse or a
psychiatric disorder or other condition which, in the opinion of the investigators,
would impede competence or compliance or possibly hinder completion of the study

For parents of WAGR/11p deletion subjects:

a) No exclusions other than lack of ability to give consent for participation

For healthy control subjects:

1. Anorexiant use in preceding 6 months

2. Greater than 2% body weight loss in preceding 6 months

3. Pregnancy

4. Individuals who have, or whose parent or guardians have, current substance abuse or a
psychiatric disorder or other condition which, in the opinion of the investigators,
would impede competence or compliance or possibly hinder completion of the study

For aniridia subjects:

1. Anorexiant use in preceding 6 months

2. Greater than 2% body weight loss in preceding 6 months

3. Pregnancy

4. Individuals who have, or whose parent or guardians have, current substance abuse or a
psychiatric disorder or other condition which, in the opinion of the investigators,
would impede competence or compliance or possibly hinder completion of the study