Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations

Fetal Diagn Ther. 2002 Mar-Apr;17(2):115-9. doi: 10.1159/000048020.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Gestational Age
  • Haplotypes
  • Humans
  • Leukocyte L1 Antigen Complex
  • Magnetic Resonance Imaging
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Neural Cell Adhesion Molecules / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Leukocyte L1 Antigen Complex
  • Membrane Glycoproteins
  • Neural Cell Adhesion Molecules
  • endodeoxyribonuclease NcoI
  • Deoxyribonucleases, Type II Site-Specific