Article
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
American journal of human genetics - 5 Dec 2013
Poulter James A, Al-Araimi Musallam, Conte Ivan, van Genderen Maria M, Sheridan Eamonn, Carr Ian M, Parry David A, Shires Mike, Carrella Sabrina, Bradbury John, Khan Kamron, Lakeman Phillis, Sergouniotis Panagiotis I, Webster Andrew R, Moore Anthony T, Pal Bishwanath, Mohamed Moin D, Venkataramana Anandula, Ramprasad Vedam, Shetty Rohit, Saktivel Murugan, Kumaramanickavel Govindasamy, Tan Alex, Mackey David A, Hewitt Alex W, Banfi Sandro, Ali Manir, Inglehearn Chris F, Toomes Carmel
Abstract excerpt
Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations...
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