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Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis

✍ Scribed by T. Tsuru; T. Yamagata; M. Y. Momoi; I. Okabe

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 130 KB
Volume: 19
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199903)19:3<269::aid-pd519>3.0.co;2-l

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✦ Synopsis

Prenatal screening of oculo-cerebro-renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL1 gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based on this analysis, the fetus was diagnosed as being normal and was subsequently delivered as a healthy boy. This is the first reported successful prenatal screening of OCRL using a comparison with defective mRNA of OCRL1 from affected subjects.

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