Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

NCT00017732 | Completed

• 2 other identifiers: 01019101-CH-0191
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

Conditions

Smith-Lemli-Opitz Syndrome

Keywords

Malformations; Ethnicity; Mutations; Cholesterol; Metabolism; Smith-Lemli-Opitz Syndrome; SLOS; Cholesterol Metabolism

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• These will be newborn screening blood spots from African American babies. Samples from Blacks of African, Caribbean and Central American descent will be included. The classification of the infants will be based on the maternal identification as Black or African American by blood spot submission card.

You may not qualify if:

• Newborn screening blood spots from non-African American or non-Black babies.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institute of Child Health and Human Development (NICHD)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Bzduch V, Behulova D, Skodova J. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet. 2000 Jan 31;90(3):260. doi: 10.1002/(sici)1096-8628(20000131)90:33.3.co;2-i. No abstract available.

  PMID: 10678669 BACKGROUND

• Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2001 Jan;72(1):67-71. doi: 10.1006/mgme.2000.3103.

  PMID: 11161831 BACKGROUND

• Angle B, Tint GS, Yacoub OA, Clark AL. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. Am J Med Genet. 1998 Dec 4;80(4):322-6.

  PMID: 9856557 BACKGROUND

MeSH Terms

Conditions

Smith-Lemli-Opitz Syndrome

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: June 8, 2001
• First Posted: June 11, 2001
• Study Start: June 1, 2001
• Study Completion: March 1, 2003
• Last Updated: March 4, 2008

Record last verified: 2003-03

Locations

US (1)