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Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations
Graciela E Moya1, Ron C Michaelis, Lynda W Holloway
1Fundacion GENOS, Buenos Aires, Argentina.
Objective:
Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations.
Methods:
Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion.
Results:
A 1-bp deletion was found in exon 2 of L1CAM in all affected males and obligate carriers in the pedigree. Prenatal detection is now possible for subsequent pregnancies.
Conclusion:
In a large gene with widespread mutations such as L1CAM, a mutation must be detected in another family member before direct prenatal mutation testing can be done within the required timeframe. If the proper family members are available, haplotyping offers a fast but indirect test with several limitations.