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Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

โœ Scribed by Anneke I. den Hollander; Robert K. Koenekoop; Suzanne Yzer; Irma Lopez; Maarten L. Arends; Krysta E.J. Voesenek; Marijke N. Zonneveld; Tim M. Strom; Thomas Meitinger; Han G. Brunner; Carel B. Hoyng; L. Ingeborgh van den Born; Klaus Rohrschneider; Frans P.M. Cremers

Book ID
117854883
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
337 KB
Volume
79
Category
Article
ISSN
0002-9297

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Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore t

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Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and ar