Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We report a family in which at least 7 members have manifestations of renal-coloboma syndrome, including two in whom renal disease was diagnosed prenatally by ultrasound examination. A pathogenic frame-shift mutation (619insG) was found in the PAX2 gene in affected family members, who show remarkable variability in both the ocular and renal manifestations of the syndrome.
Ford
B
B
Department of Ophthalmology, Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada.
Rupps
R
R
Lirenman
D
D
Van Allen
M I
MI
Farquharson
D
D
Lyons
C
C
Friedman
J M
JM
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities; D005654:Fundus Oculi; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D051762:PAX2 Transcription Factor; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014564:Urogenital Abnormalities / Q000235:genetics
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors