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Abstract
PURPOSE. Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for similar to 70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA. METHODS. Homozygosity mapping in > 150 LCA patients of worldwide origin was performed with high-density SNP microarrays to identify new disease-causing genes. RESULTS. In three isolated LCA patients, the authors identified large homozygous regions on chromosome 3 encompassing the IQCB1 gene, which has been associated with Senior-Loken syndrome (SLSN), characterized by nephronophthisis and retinal degeneration. Mutation analysis of IQCB1 in these three patients and a subsequent cohort of 222 additional LCA patients identified frameshift and nonsense mutations in 11 patients diagnosed with LCA. On re-inspection of the patient's disease status, seven were found to have developed SLSN, but four maintained the diagnosis of LCA as the kidney function remained normal. CONCLUSIONS. Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in LCA patients without nephronophthisis, rendering IQCB1 a new gene for LCA. However, these patients are at high risk for developing renal failure, which in early stages is often not recognized and can cause sudden death from fluid and electrolyte imbalance. It is therefore recommended that all LCA patients be screened for IQCB1 mutations, to follow them more closely for kidney disease. (Invest Ophthalmol Vis Sci. 2011;52:834-839) DOI:10.1167/iovs.10-5221
Keywords
JOUBERT-SYNDROME, CENTROSOMAL PROTEIN, SENIOR-LOKEN-SYNDROME, RETINAL DEGENERATION, RETINITIS-PIGMENTOSA, NPHP6 GENE, CEP290, NEPHRONOPHTHISIS, DISEASE, IDENTIFICATION

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MLA
Estrada-Cuzcano, Alejandro, Robert K Koenekoop, Frauke Coppieters, et al. “IQCB1 Mutations in Patients with Leber Congenital Amaurosis.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 52.2 (2011): 834–839. Print.
APA
Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W., De Baere, E., et al. (2011). IQCB1 Mutations in Patients with Leber Congenital Amaurosis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 52(2), 834–839.
Chicago author-date
Estrada-Cuzcano, Alejandro, Robert K Koenekoop, Frauke Coppieters, Susanne Kohl, Irma Lopez, Rob WJ Collin, Elfride De Baere, et al. 2011. “IQCB1 Mutations in Patients with Leber Congenital Amaurosis.” Investigative Ophthalmology & Visual Science 52 (2): 834–839.
Chicago author-date (all authors)
Estrada-Cuzcano, Alejandro, Robert K Koenekoop, Frauke Coppieters, Susanne Kohl, Irma Lopez, Rob WJ Collin, Elfride De Baere, Debbie Roeleveld, Jonah Marek, Antje Bernd, Klaus Rohrschneider, L Ingeborgh van den Born, Francoise Meire, Irene H Maumenee, Samuel G Jacobson, Carel B Hoyng, Eberhart Zrenner, Frans PM Cremers, and Anneke I den Hollander. 2011. “IQCB1 Mutations in Patients with Leber Congenital Amaurosis.” Investigative Ophthalmology & Visual Science 52 (2): 834–839.
Vancouver
1.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, et al. IQCB1 Mutations in Patients with Leber Congenital Amaurosis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2011;52(2):834–9.
IEEE
[1]
A. Estrada-Cuzcano et al., “IQCB1 Mutations in Patients with Leber Congenital Amaurosis,” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 52, no. 2, pp. 834–839, 2011.
@article{1257924,
  abstract     = {PURPOSE. Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for similar to 70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA. METHODS. Homozygosity mapping in > 150 LCA patients of worldwide origin was performed with high-density SNP microarrays to identify new disease-causing genes. RESULTS. In three isolated LCA patients, the authors identified large homozygous regions on chromosome 3 encompassing the IQCB1 gene, which has been associated with Senior-Loken syndrome (SLSN), characterized by nephronophthisis and retinal degeneration. Mutation analysis of IQCB1 in these three patients and a subsequent cohort of 222 additional LCA patients identified frameshift and nonsense mutations in 11 patients diagnosed with LCA. On re-inspection of the patient's disease status, seven were found to have developed SLSN, but four maintained the diagnosis of LCA as the kidney function remained normal. CONCLUSIONS. Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in LCA patients without nephronophthisis, rendering IQCB1 a new gene for LCA. However, these patients are at high risk for developing renal failure, which in early stages is often not recognized and can cause sudden death from fluid and electrolyte imbalance. It is therefore recommended that all LCA patients be screened for IQCB1 mutations, to follow them more closely for kidney disease. (Invest Ophthalmol Vis Sci. 2011;52:834-839) DOI:10.1167/iovs.10-5221},
  author       = {Estrada-Cuzcano, Alejandro and Koenekoop, Robert K and Coppieters, Frauke and Kohl, Susanne and Lopez, Irma and Collin, Rob WJ and De Baere, Elfride and Roeleveld, Debbie and Marek, Jonah and Bernd, Antje and Rohrschneider, Klaus and van den Born, L Ingeborgh and Meire, Francoise and Maumenee, Irene H and Jacobson, Samuel G and Hoyng, Carel B and Zrenner, Eberhart and Cremers, Frans PM and den Hollander, Anneke I},
  issn         = {0146-0404},
  journal      = {INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE},
  keywords     = {JOUBERT-SYNDROME,CENTROSOMAL PROTEIN,SENIOR-LOKEN-SYNDROME,RETINAL DEGENERATION,RETINITIS-PIGMENTOSA,NPHP6 GENE,CEP290,NEPHRONOPHTHISIS,DISEASE,IDENTIFICATION},
  language     = {eng},
  number       = {2},
  pages        = {834--839},
  title        = {IQCB1 Mutations in Patients with Leber Congenital Amaurosis},
  url          = {http://dx.doi.org/10.1167/iovs.10-5221},
  volume       = {52},
  year         = {2011},
}

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