title: Non-allelic heterogeneity in familial unilateral renal adysplasia.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Catania, Via S. Sofia 78, 95123 Catania, Italy. livolti@mbox.unict.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Li Volti
authors.forename: Antonio
authors.initials: A
authors.lastname: Faiella
authors.forename: Silverio
authors.initials: S
authors.lastname: Perrotta
authors.forename: Giovanni
authors.initials: G
authors.lastname: Li Volti
authors.forename: Giuliana
authors.initials: G
authors.lastname: Lama
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Edoardo
authors.initials: E
authors.lastname: Boncinelli
mesh_terms: 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
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051762:PAX2 Transcription Factor; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins; C497318:PAX2 protein, human