221
Views
10
CrossRef citations to date
0
Altmetric
Research Reports

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy

, , , &
Pages 294-300 | Received 20 Feb 2015, Accepted 05 Jul 2015, Published online: 11 Feb 2016

References

  • Estrada-Cuzcano A, Neveling K, Kohl S, et al. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet 2012;90:102–109.
  • Katagiri S, Hayashi T, Yoshitake K, et al. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genet 2014:1–8.
  • Rosenberg T. Epidemiology of hereditary ocular disorders. Dev Ophthalmol 2003;37:16–33.
  • Michaelides M, Hardcastle AJ, Hunt DM, et al. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol 2006;51:232–258.
  • van Huet RA, Estrada-Cuzcano A, Banin E, et al. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. Invest Ophthalmol Vis Sci 2013;54:4683–4690.
  • Jinda W, Taylor TD, Suzuki Y, et al. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. Invest Ophthalmol Vis Sci 2014;55:2259–2268.
  • Lazar CH, Mutsuddi M, Kimchi A, et al. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. Invest Ophthalmol Vis Sci 2015;56:420–430.
  • Ravesh Z, El Asrag ME, Weisschuh N, et al. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Mol Vis 2015;21:236–243.
  • Gudbjartsson DF, Jonasson K, Frigge ML, et al. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000;25:12–13.
  • Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 2005;21:2123–2125.
  • Karolchik D, Barber GP, Casper J, et al. The UCSC Genome Browser database: 2014 update. Nucleic Acids Res 2014;42( Database issue):D764–770.
  • Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR. Hum Mol Genet 1998;7:355–362.
  • Parry DA, Toomes C, Bida L, et al. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet 2009;84:683–691.
  • Aleman TS, Soumittra N, Cideciyan AV, et al. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci 2009;50:5944–5954.
  • Hameed A, Abid A, Aziz A, et al. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet 2003;40:616–619.
  • Ostergaard E, Batbayli M, Duno M, et al. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J Med Genet 2010;47:665–669.
  • Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:281–295.
  • Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 2010;11:331–344.
  • Mockel A, Perdomo Y, Stutzmann F, et al. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res 2011;30:258–274.
  • M’Hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of Bardet-Biedl syndrome. Mol Syndromol 2014;5:51–56.
  • Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009;119:428–437.
  • Badano JL, Mitsuma N, Beales PL, et al. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125–148.
  • Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437–446.
  • Rooryck C, Lacombe D. [Bardet-Biedl syndrome]. Ann Endocrinol (Paris) 2008;69:463–471.
  • Guo B, Lee SK, Paksima N. Polydactyly: a review. Bull Hosp Jt Dis 2013;71:17–23.
  • Watson BT, Hennrikus WL. Postaxial type-B polydactyly. Prevalence and treatment. J Bone Joint Surg Am 1997;79:65–68.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.