Non-allelic heterogeneity in familial unilateral renal adysplasia.
We report three families with dominant unilateral renal adysplasia without vesico-ureteral reflux. No dysmorphia or anomalies were evident in the reproductive system. Ophthalmological examination excluded the presence of optic nerve coloboma or other ocular anomalies. No mutations were detected in the EMX(2) and in PAX(2) genes of affected members. Other homeobox genes could be responsible for this anomaly in these three families.
Li Volti
Salvatore
S
Department of Pediatrics, University of Catania, Via S. Sofia 78, 95123 Catania, Italy. livolti@mbox.unict.it
Faiella
Antonio
A
Perrotta
Silverio
S
Li Volti
Giovanni
G
Lama
Giuliana
G
Bianca
Sebastiano
S
Boncinelli
Edoardo
E
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D051762:PAX2 Transcription Factor; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics; D014564:Urogenital Abnormalities / Q000209:etiology / Q000235:genetics*; D000099260:Empty Spiracles Homeobox Proteins
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051762:PAX2 Transcription Factor; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins; C497318:PAX2 protein, human