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Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24

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Abstract
PURPOSE. To map the disease locus of a two-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy (arCRD). All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color distinction. Fundoscopy revealed marked macular degeneration and attenuation of retinal vessels. Mild pigmentary changes were present in the periphery. METHODS. Genomic DNA was amplified across the polymorphic microsatellite poly-CA regions identified by markers. Alleles were assigned to individuals that allowed calculation of LOD scores using the Cyrillic (Cherwell Scientific, Oxford, UK) and MLINK (accessed from ftp://linkage. rockefeller.edu/softeware/linkage/) software programs. The cellular retinoic acid-binding protein 2 (CRABP2), cone transducin alpha -subunit (GNAT2), potassium inwardly rectifying channel, subfamily J, member 10 (KCNJ10), genes were analyzed by heteroduplex analysis and direct sequencing for mutations. RESULTS. A new locus for arCRD (CORD8) has been mapped to chromosome 1q12-q24. A maximum two-point LOD score of 4.22 was obtained with marker D1S2635 at recombination fraction of theta = 0.00. Two critical recombinations in the pedigree positioned this locus to a region flanked by markers D1S457 and D1S2681. A region of homozygosity was observed within the loci D1S442 and D1S2681, giving a probable critical disease interval of 21 cM. Mutation screening of the three candidate genes CRABP2, GNAT2, and KCNJ10 revealed no disease-associated mutations. CONCLUSIONS. The findings therefore suggest that this phenotype maps to a new locus and is due to an as yet uncharacterized gene within the 1q12-q24 chromosomal region.
Keywords
DEGENERATION, PHOTORECEPTOR, MUTATIONS, RETINITIS-PIGMENTOSA, HOMEOBOX GENE

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Citation

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Chicago
Khaliq, Shagufta, Abdul Hameed, Myhammad Ismail, Khalid Anwar, Bart Leroy, S Qasim Mehdi, Annette M Payne, and Shomi S Bhattacharya. 2000. “Novel Locus for Autosomal Recessive Cone-rod Dystrophy CORD8 Mapping to Chromosome 1q12-Q24.” Investigative Ophthalmology & Visual Science 41 (12): 3709–3712.
APA
Khaliq, S., Hameed, A., Ismail, M., Anwar, K., Leroy, B., Mehdi, S. Q., Payne, A. M., et al. (2000). Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 41(12), 3709–3712.
Vancouver
1.
Khaliq S, Hameed A, Ismail M, Anwar K, Leroy B, Mehdi SQ, et al. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2000;41(12):3709–12.
MLA
Khaliq, Shagufta, Abdul Hameed, Myhammad Ismail, et al. “Novel Locus for Autosomal Recessive Cone-rod Dystrophy CORD8 Mapping to Chromosome 1q12-Q24.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 41.12 (2000): 3709–3712. Print.
@article{142728,
  abstract     = {PURPOSE. To map the disease locus of a two-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy (arCRD). All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color distinction. Fundoscopy revealed marked macular degeneration and attenuation of retinal vessels. Mild pigmentary changes were present in the periphery. 
METHODS. Genomic DNA was amplified across the polymorphic microsatellite poly-CA regions identified by markers. Alleles were assigned to individuals that allowed calculation of LOD scores using the Cyrillic (Cherwell Scientific, Oxford, UK) and MLINK (accessed from ftp://linkage. rockefeller.edu/softeware/linkage/) software programs. The cellular retinoic acid-binding protein 2 (CRABP2), cone transducin alpha -subunit (GNAT2), potassium inwardly rectifying channel, subfamily J, member 10 (KCNJ10), genes were analyzed by heteroduplex analysis and direct sequencing for mutations. 
RESULTS. A new locus for arCRD (CORD8) has been mapped to chromosome 1q12-q24. A maximum two-point LOD score of 4.22 was obtained with marker D1S2635 at recombination fraction of theta = 0.00. Two critical recombinations in the pedigree positioned this locus to a region flanked by markers D1S457 and D1S2681. A region of homozygosity was observed within the loci D1S442 and D1S2681, giving a probable critical disease interval of 21 cM. Mutation screening of the three candidate genes CRABP2, GNAT2, and KCNJ10 revealed no disease-associated mutations. 
CONCLUSIONS. The findings therefore suggest that this phenotype maps to a new locus and is due to an as yet uncharacterized gene within the 1q12-q24 chromosomal region.},
  author       = {Khaliq, Shagufta and Hameed, Abdul and Ismail, Myhammad and Anwar, Khalid and Leroy, Bart and Mehdi, S Qasim and Payne, Annette M and Bhattacharya, Shomi S},
  issn         = {0146-0404},
  journal      = {INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE},
  keywords     = {DEGENERATION,PHOTORECEPTOR,MUTATIONS,RETINITIS-PIGMENTOSA,HOMEOBOX GENE},
  language     = {eng},
  number       = {12},
  pages        = {3709--3712},
  title        = {Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24},
  url          = {http://www.iovs.org/content/41/12/3709},
  volume       = {41},
  year         = {2000},
}

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