PURPOSE. TO identify the generic defect causing autosomal recessive cataract in two inbred families. METHODS. Linkage analysis was performed with polymorphic markers close to 14 loci previously shown to be involved in autosomal dominant congenital cataract. In one of the families a gene segregating with the disease was analyzed by single-strand conformation polymorphism (SSCP) and eventually sequenced. RESULTS. Three polymorphic markers close to the CRYAA gene located on chromosome 21q segregated with the disease phenotype in one of the families, but not in the other. Sequencing of the CRYAA in this Jewish Persian family revealed a G-to-A substitution, resulting in the formation of a premature stop codon (W9X). CONCLUSIONS. A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. This constitutes the first description of the molecular defect underlying nonsyndromic autosomal recessive congenital cataract. That there was no linkage to this locus in another family provides evidence for genetic heterogeneity.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Siemiatkowska, Anna M.
Astuti, Galuh D. N.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Diponegoro Univ, Fac Med, Ctr Biomed Res, Div Human Genet, Semarang, IndonesiaRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Astuti, Galuh D. N.
Arimadyo, Kentar
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Diponegoro Univ, Fac Med, Ctr Biomed Res, Div Human Genet, Semarang, Indonesia
Diponegoro Univ, Dr Kariadi Hosp, Fac Med, Dept Ophthalmol, Semarang, IndonesiaRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Arimadyo, Kentar
den Hollander, Anneke I.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
den Hollander, Anneke I.
Faradz, Sultana M. H.
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Diponegoro Univ, Fac Med, Ctr Biomed Res, Div Human Genet, Semarang, IndonesiaRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Faradz, Sultana M. H.
Cremers, Frans P. M.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Cremers, Frans P. M.
Collin, Rob W. J.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
机构:
UCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Duncan, Andrew J.
Bitner-Glindzicz, Maria
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UCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Bitner-Glindzicz, Maria
Meunier, Brigitte
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CNRS, Ctr Genet Mol, FRC3115, F-91198 Gif Sur Yvette, FranceUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Meunier, Brigitte
Costello, Harry
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UCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Costello, Harry
Hargreaves, Iain P.
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Natl Hosp Neurol, Neurometab Unit, London WC1N 3BG, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Hargreaves, Iain P.
Lopez, Luis C.
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Columbia Univ, Med Ctr, New York, NY 10032 USAUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Lopez, Luis C.
Hirano, Michio
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Columbia Univ, Med Ctr, New York, NY 10032 USAUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Hirano, Michio
Quinzii, Catarina M.
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Columbia Univ, Med Ctr, New York, NY 10032 USAUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Quinzii, Catarina M.
Sadowski, Michael I.
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Natl Inst Med Res, Div Math Biol, London NW7 1AA, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Sadowski, Michael I.
Hardy, John
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Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
Inst Neurol, Reta Lila Western Labs, London WC1N 3BG, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Hardy, John
Singleton, Andrew
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NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Singleton, Andrew
Clayton, Peter T.
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UCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, Metab Unit, London WC1N 3JH, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Clayton, Peter T.
Rahman, Shamima
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UCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, Metab Unit, London WC1N 3JH, England
MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandUCL, Inst Child Hlth, Mitochondrial Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England