Article
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
Molecular vision - 4 Aug 2008
Bustamante-Aragones Ana, Vallespin Elena, Rodriguez de Alba Marta, Trujillo-Tiebas Maria Jose, Gonzalez-Gonzalez Cristina, Diego-Alvarez Dan, Riveiro-Alvarez Rosa, Lorda-Sanchez Isabel, Ayuso Carmen, Ramos Carmen
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field:...
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