Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

American Journal of Human Genetics

Volumn 89, Issue 1, 2011, Pages 183-190

  Sergouniotis, Panagiotis I ^a,b   Davidson, Alice E ^a   Mackay, Donna S ^a   Li, Zheng ^a,e   Yang, Xu ^c   Plagnol, Vincent ^d   Moore, Anthony T ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c BGI SHENZHEN   (China)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNJ1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL FEATURE; EXOME; FEMALE; GENE MAPPING; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 80051501594     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.06.002     Document Type: Article

References (28)

1. Wright, A.F., Chakarova, C.F., Abd El-Aziz, M.M., and Bhattacharya, S.S. (2010). Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat. Rev. Genet. 11, 273-284.
2. den Hollander, A.I., Roepman, R., Koenekoop, R.K., and Cremers, F.P.M. (2008). Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res. 27, 391-419.
3. den Hollander, A.I., Black, A., Bennett, J., and Cremers, F.P. (2010). Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J. Clin. Invest. 120, 3042-3053.
4. Lander, E.S., and Botstein, D. (1987). Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570. (Pubitemid 17087948)
5. Korn, J.M., Kuruvilla, F.G., McCarroll, S.A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P.J., Darvishi, K., et al. (2008). Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet. 40, 1253-1260.
6. Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L., and Weber, J.L. (1998). Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869. (Pubitemid 30422687)
7. Wang, K., Li, M., and Hakonarson, H. (2010). ANNOVAR: functional annotation of genetic variants from highthroughput sequencing data. Nucleic Acids Res. 38, e164.
8. Döring, F., Derst, C.,Wischmeyer, E., Karschin, C., Schneggenburger, R., Daut, J., and Karschin, A. (1998). The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties. J. Neurosci. 18, 8625-8636. (Pubitemid 28491729)
9. Krapivinsky, G., Medina, I., Eng, L., Krapivinsky, L., Yang, Y., and Clapham, D.E. (1998). A novel inward rectifier K+ channel with unique pore properties. Neuron 20, 995-1005. (Pubitemid 28247404)
10. Partiseti, M., Collura, V., Agnel, M., Culouscou, J.M., and Graham, D. (1998). Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine. FEBS Lett. 434, 171-176. (Pubitemid 28404683)
11. Hibino, H., Inanobe, A., Furutani, K., Murakami, S., Findlay, I., and Kurachi, Y. (2010). Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol. Rev. 90, 291-366.
12. Nakamura, N., Suzuki, Y., Sakuta, H., Ookata, K., Kawahara, K., and Hirose, S. (1999). Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+,K+-ATPase. Biochem. J. 342, 329-336. (Pubitemid 29425354)
13. Kusaka, S., Inanobe, A., Fujita, A., Makino, Y., Tanemoto, M., Matsushita, K., Tano, Y., and Kurachi, Y. (2001). Functional Kir7.1 channels localized at the root of apical processes in rat retinal pigment epithelium. J. Physiol. 531, 27-36. (Pubitemid 32178024)
14. Hejtmancik, J.F., Jiao, X., Li, A., Sergeev, Y.V., Ding, X., Sharma, A.K., Chan, C.C., Medina, I., and Edwards, A.O. (2008). Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am. J. Hum. Genet. 82, 174-180. (Pubitemid 351726076)
15. Tateno, T., Nakamura, N., Hirata, Y., and Hirose, S. (2006). Role of C-terminus of Kir7.1 potassium channel in cell-surface expression. Cell Biol. Int. 30, 270-277. (Pubitemid 43276454)
16. Hirose, T., Lee, K.Y., and Schepens, C.L. (1974). Snowflake degeneration in hereditary vitreoretinal degeneration. Am. J. Ophthalmol. 77, 143-153.
17. Edwards, A.O. (2008). Clinical features of the congenital vitreoretinopathies. Eye (Lond.) 22, 1233-1242.
18. Lee, M.M., Ritter, R., III, Hirose, T., Vu, C.D., and Edwards, A.O. (2003). Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmology 110, 2418-2426. (Pubitemid 37485175)
19. Lang, G.E., Laudi, B., and Pfeiffer, R.A. (1991). [Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation]. Klin. Monatsbl. Augenheilkd. 198, 207-214.
20. Gheiler, M., Pollack, A., Uchenik, D., Godel, V., and Oliver, M. (1982). Hereditary snowflake vitreoretinal degeneration. Birth Defects Orig. Artic. Ser. 18, 577-580. (Pubitemid 13185891)
21. Robertson, D.M., Link, T.P., and Rostvold, J.A. (1982). Snowflake degeneration of the retina. Ophthalmology 89, 1513-1517. (Pubitemid 13217695)
22. Pollack, A., Uchenik, D., Chemke, J., and Oliver, M. (1983). Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. Arch. Ophthalmol. 101, 1536-1539. (Pubitemid 13010019)
23. Chen, C.J., Everett, T.K., and Marascalco, D. (1986). Snowflake degeneration: an independent entity or a variant of retinitis pigmentosa? South. Med. J. 79, 1216-1223.
24. Tao, X., Avalos, J.L., Chen, J., and MacKinnon, R. (2009). Crystal structure of the eukaryotic strong inward-rectifier K+ channel Kir2.2 at 3.1 A resolution. Science 326, 1668-1674.
25. Thomas, P., Ye, Y., and Lightner, E. (1996). Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum. Mol. Genet. 5, 1809-1812. (Pubitemid 26372418)
26. Simon, D.B., Karet, F.E., Rodriguez-Soriano, J., Hamdan, J.H., DiPietro, A., Trachtman, H., Sanjad, S.A., and Lifton, R.P. (1996). Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat. Genet. 14, 152-156. (Pubitemid 26338794)
27. Scholl, U.I., Choi, M., Liu, T., Ramaekers, V.T., Häusler, M.G., Grimmer, J., Tobe, S.W., Farhi, A., Nelson-Williams, C., and Lifton, R.P. (2009). Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. USA 106, 5842-5847.
28. Plaster, N.M., Tawil, R., Tristani-Firouzi, M., Canún, S., Bendahhou, S., Tsunoda, A., Donaldson, M.R., Iannaccone, S.T., Brunt, E., Barohn, R., et al. (2001). Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105, 511-519. (Pubitemid 32520856)