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Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family

✍ Scribed by Ford, Bryce ;Rupps, Rosemarie ;Lirenman, David ;Van Allen, Margot I. ;Farquharson, Duncan ;Lyons, Christopher ;Friedman, J.M.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 102 KB
Volume: 99
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1143>3.0.co;2-f

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✦ Synopsis

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 renalcoloboma 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.

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