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


CONCLUSIONS
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.
Moya
Graciela E
GE
Fundacion GENOS, Buenos Aires, Argentina.
Michaelis
Ron C
RC
Holloway
Lynda W
LW
Sanchez
Jose Maria
JM
D000328:Adult; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005865:Gestational Age; D006239:Haplotypes; D006801:Humans; D039841:Leukocyte L1 Antigen Complex; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules; C052380:endodeoxyribonuclease NcoI; D015252:Deoxyribonucleases, Type II Site-Specific