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


Poulter, JA and Al-Araimi, M and Conte, I and Van Genderen, MM and Sheridan, E and Carr, IM and Parry, DA and Shires, M and Carrella, S and Bradbury, J and Khan, K and Lakeman, P and Sergouniotis, PI and Webster, AR and Moore, AT and Pal, B and Mohamed, MD and Venkataramana, A and Ramprasad, V and Shetty, R and Saktivel, M and Kumaramanickavel, G and Tan, A and Mackey, DA and Hewitt, AW and Banfi, S and Ali, M and Inglehearn, CF and Toomes, C, Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (6) pp. 1143-1150. ISSN 0002-9297 (2013) [Refereed Article]

Copyright Statement

Copyright 2013 The American Society of Human Genetics

DOI: doi:10.1016/j.ajhg.2013.11.002


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:95028
Year Published:2013
Web of Science® Times Cited:55
Deposited By:Anatomy and Physiology
Deposited On:2014-09-23
Last Modified:2017-11-06

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