Prenatal diagnosis of aniridia.
OBJECTIVE
To use molecular genetic techniques to prenatally screen for aniridia.


METHODS
Case report.


METHODS
DNA was extracted from cultured fibroblasts obtained through amniocentesis. Two mutation detection methods, Ava1 restriction digestion and single-strand conformational polymorphism electrophoresis, were used to screen the PAX6 gene.


METHODS
The results from the amniocentesis sample were compared with DNA obtained from the affected father, firstborn infant, and unaffected mother to determine whether the fetus carried the PAX6 mutation.


RESULTS
DNA from the fetus demonstrated the same banding pattern as the affected father and firstborn infant.


CONCLUSIONS
The fetus carried the mutated PAX6 allele and was predicted to develop aniridia. This was later confirmed when the child was born. This case report illustrates an important use of genetic mutation screening in the clinical setting.
Churchill
A J
AJ
Molecular Medicine Unit, St. James's Hospital, University of Leeds, England.
Hanson
I M
IM
Markham
A F
AF
D000328:Adult; D000649:Amniocentesis; D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005347:Fibroblasts / Q000166:cytology; D005820:Genetic Testing / Q000379:methods; D018398:Homeodomain Proteins; D006801:Humans; D007223:Infant; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012097:Repressor Proteins
D017931:DNA Primers; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins