Smith-Lemli-Opitz Syndrome Clinical Trial
Official title:
Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
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).
Status | Completed |
Enrollment | 2000 |
Est. completion date | March 2003 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A and older |
Eligibility |
INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: Newborn screening blood spots from non-African American or non-Black babies. |
N/A
Country | Name | City | State |
---|---|---|---|
United States | National Institute of Child Health and Human Development (NICHD) | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
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. — View Citation
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. — View Citation
Bzdúch V, Behúlová D, Skodová J. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet. 2000 Jan 31;90(3):260. — View Citation
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