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Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism

journal contribution
posted on 2023-05-18, 03:38 authored by Poulter, JA, Al-Araimi, M, Conte, I, Van Genderen, MM, Sheridan, E, Carr, IM, Parry, DA, Shires, M, Carrella, S, Bradbury, J, Khan, K, Lakeman, P, Sergouniotis, PI, Webster, AR, Moore, AT, Pal, B, Mohamed, MD, Venkataramana, A, Ramprasad, V, Shetty, R, Saktivel, M, Kumaramanickavel, G, Tan, A, David MackeyDavid Mackey, Alexander HewittAlexander Hewitt, Banfi, S, Ali, M, Inglehearn, CF, Toomes, C
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 were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

History

Publication title

American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man

Volume

93

Issue

6

Pagination

1143-1150

ISSN

0002-9297

Department/School

Tasmanian School of Medicine

Publisher

Univ Chicago Press

Place of publication

1427 E 60Th St, Chicago, USA, Il, 60637-2954

Rights statement

Copyright 2013 The American Society of Human Genetics

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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