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

American Journal of Human Genetics

Volumn 93, Issue 6, 2013, Pages 1143-1150

  Poulter, James A ^a   Al Araimi, Musallam ^a   Conte, Ivan ^b   Van Genderen, Maria M ^c   Sheridan, Eamonn ^a,d   Carr, Ian M ^a   Parry, David A ^a   Shires, Mike ^a   Carrella, Sabrina ^b   Bradbury, John ^e   Khan, Kamron ^a   Lakeman, Phillis ^f   Sergouniotis, Panagiotis I ^g,h   Webster, Andrew R ^g,h   Moore, Anthony T ^g,h   Pal, Bishwanath ^h   Mohamed, Moin D ⁱ   Venkataramana, Anandula ^j   Ramprasad, Vedam ^k   Shetty, Rohit ^j   Saktivel, Murugan ^k   Kumaramanickavel, Govindasamy ^j   Tan, Alex ^l   Mackey, David A ^l   Hewitt, Alex W ^l   Banfi, Sandro ^b,m   Ali, Manir ^a   Inglehearn, Chris F ^a   Toomes, Carmel ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c Institute for the Visually Impaired   (Netherlands)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e BRADFORD ROYAL INFIRMARY   (United Kingdom)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h MOORFIELDS EYE HOSPITAL   (United Kingdom)

ⁱ ST THOMAS HOSPITAL   (United Kingdom)

^j Narayana Health City   (India)

^k SCIGENOM LABS PVT LTD   (India)

^l UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^m SECOND UNIVERSITY OF NAPLES   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMIC ACID; GLUTAMINE; LEUCINE; METHIONINE; PROTEIN; SLC38A8 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EYE DISEASE; FOVEAL HYPOPLASIA; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; MISSENSE MUTATION; NONHUMAN; OCULAR ALBINISM; OPTIC NERVE DISEASE; ORYZIAS; PHENOTYPE; PRIORITY JOURNAL; RETINA FOVEA; RETINAL THICKNESS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALBINISM; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ANIMALS; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FOVEA CENTRALIS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MUTATION; OPTIC NERVE; PEDIGREE; PHENOTYPE; SYNDROME;

ORYZIINAE;

EID: 84890312149     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.11.002     Document Type: Article

References (31)

1. M. Michaelides, G. Jeffery, and A.T. Moore Developmental macular disorders: phenotypes and underlying molecular genetic basis Br. J. Ophthalmol. 96 2012 917 924
2. C. Dessinioti, A.J. Stratigos, D. Rigopoulos, and A.D. Katsambas A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes Exp. Dermatol. 18 2009 741 749
3. M.V. Schiaffino Signaling pathways in melanosome biogenesis and pathology Int. J. Biochem. Cell Biol. 42 2010 1094 1104
4. M. Al-Araimi, B. Pal, J.A. Poulter, M.M. van Genderen, I. Carr, T. Cudrnak, L. Brown, E. Sheridan, M.D. Mohamed, and J. Bradbury A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1 Mol. Vis. 19 2013 2165 2172
5. B. Pal, M.D. Mohamed, T.J. Keen, G.A. Williams, J.A. Bradbury, E. Sheridan, and C.F. Inglehearn A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2 J. Med. Genet. 41 2004 772 777
6. M.M. van Genderen, F.C.C. Riemslag, J. Schuil, F.P. Hoeben, J.S. Stilma, and F.M. Meire Chiasmal misrouting and foveal hypoplasia without albinism Br. J. Ophthalmol. 90 2006 1098 1102
7. N.T. Loges, H. Olbrich, A. Becker-Heck, K. Häffner, A. Heer, C. Reinhard, M. Schmidts, A. Kispert, M.A. Zariwala, and M.W. Leigh Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects Am. J. Hum. Genet. 85 2009 883 889
8. A. Vincent, V. Kemmanu, R. Shetty, V. Anandula, B. Madhavarao, and B. Shetty Variable expressivity of ocular associations of foveal hypoplasia in a family Eye (Lond.) 23 2009 1735 1739
9. V.R. Anandula, R. Shetty, A. Vincent, V.L. Ramprasad, and N. Ramesh Gene mapping in a highly inbred consanguineous foveal hypoplasia family to cytogenetic region 16q24.1 Journal of Medical Genetics and Genomics 3 2011 122 125
10. S.J. Charles, J.S. Green, J.W. Grant, J.R. Yates, and A.T. Moore Clinical features of affected males with X linked ocular albinism Br. J. Ophthalmol. 77 1993 222 227
11. T. Shiono, M. Tsunoda, Y. Chida, M. Nakazawa, and M. Tamai X linked ocular albinism in Japanese patients Br. J. Ophthalmol. 79 1995 139 143
12. S. Fukamachi, A. Shimada, and A. Shima Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka Nat. Genet. 28 2001 381 385
13. T. Iwamatsu Stages of normal development in the medaka Oryzias latipes Mech. Dev. 121 2004 605 618
14. I. Conte, S. Carrella, R. Avellino, M. Karali, R. Marco-Ferreres, P. Bovolenta, and S. Banfi miR-204 is required for lens and retinal development via Meis2 targeting Proc. Natl. Acad. Sci. USA 107 2010 15491 15496
15. J.S. Eisen, and J.C. Smith Controlling morpholino experiments: don't stop making antisense Development 135 2008 1735 1743
16. M.E. Robu, J.D. Larson, A. Nasevicius, S. Beiraghi, C. Brenner, S.A. Farber, and S.C. Ekker p53 activation by knockdown technologies PLoS Genet. 3 2007 e78
17. F. Del Bene, L. Ettwiller, D. Skowronska-Krawczyk, H. Baier, J.M. Matter, E. Birney, and J. Wittbrodt In vivo validation of a computationally predicted conserved Ath5 target gene set PLoS Genet. 3 2007 1661 1671
18. H. Yoda, Y. Hirose, A. Yasuoka, T. Sasado, C. Morinaga, T. Deguchi, T. Henrich, N. Iwanami, T. Watanabe, and M. Osakada Mutations affecting retinotectal axonal pathfinding in Medaka, Oryzias latipes Mech. Dev. 121 2004 715 728
19. T.J. Petros, A. Rebsam, and C.A. Mason Retinal axon growth at the optic chiasm: to cross or not to cross Annu. Rev. Neurosci. 31 2008 295 315
20. R.E. Curran, and R.M. Robb Isolated foveal hypoplasia Arch. Ophthalmol. 94 1976 48 50
21. M.D. Oliver, S.A. Dotan, J. Chemke, and F.A. Abraham Isolated foveal hypoplasia Br. J. Ophthalmol. 71 1987 926 930
22. A. Sjöström, M. Kraemer, J. Ohlsson, and G. Villarreal Subnormal visual acuity syndromes (SVAS): Albinism in Swedish 12-13-year-old children Doc. Ophthalmol. 103 2001 35 46
23. S. Yazar, H. Forward, C.M. McKnight, A. Tan, A. Soloshenko, S.K. Oates, W. Ang, J.C. Sherwin, D. Wood, and J.A. Mountain Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults Ophthalmic Genet. 2013 Published online January 10, 2013
24. A.L. Price, N.J. Patterson, R.M. Plenge, M.E. Weinblatt, N.A. Shadick, and D. Reich Principal components analysis corrects for stratification in genome-wide association studies Nat. Genet. 38 2006 904 909
25. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham PLINK: A tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 2007 559 575
26. B. Mackenzie, and J.D. Erickson Sodium-coupled neutral amino acid (System N/A) transporters of the SLC38 gene family Pflugers Arch. 447 2004 784 795
27. M.G. Hägglund, S. Sreedharan, V.C. Nilsson, J.H. Shaik, I.M. Almkvist, S. Bäcklin, O. Wrange, and R. Fredriksson Identification of SLC38A7 (SNAT7) protein as a glutamine transporter expressed in neurons J. Biol. Chem. 286 2011 20500 20511
28. H.B. Schiöth, S. Roshanbin, M.G. Hägglund, and R. Fredriksson Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects Mol. Aspects Med. 34 2013 571 585
29. S.M. Koch, C.G. Dela Cruz, T.S. Hnasko, R.H. Edwards, A.D. Huberman, and E.M. Ullian Pathway-specific genetic attenuation of glutamate release alters select features of competition-based visual circuit refinement Neuron 71 2011 235 242
30. R.A. Martins, and R.A. Pearson Control of cell proliferation by neurotransmitters in the developing vertebrate retina Brain Res. 1192 2008 37 60
31. G. Jeffery Architecture of the optic chiasm and the mechanisms that sculpt its development Physiol. Rev. 81 2001 1393 1414