| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
1 From the Department of Ophthalmology, Sapir Medical Center, Kfar Saba; and the 2 Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel. Both institutions are affiliated with the Sackler Faculty of Medicine, Tel Aviv University, Israel.
PURPOSE. To identify the genetic 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.
This article has been cited by other articles:
|
|
 |
|
  S. P. G Ponnam, K. Ramesha, S. Tejwani, B. Ramamurthy, and C. Kannabiran Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract BMJ Case Reports, June 30, 2009; 2009(jun30_1): bcr0620091995 - bcr0620091995. [Abstract] [Full Text]
|
|
|
|
 |
|
 Q. Huang, L. Ding, K. B. Phan, C. Cheng, C.-h. Xia, X. Gong, and J. Horwitz Mechanism of Cataract Formation in {alpha}A-crystallin Y118D Mutation Invest. Ophthalmol. Vis. Sci., June 1, 2009; 50(6): 2919 - 2926. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J.-h. Xi, F. Bai, J. Gross, R. R. Townsend, A. S. Menko, and U. P. Andley Mechanism of Small Heat Shock Protein Function in Vivo: A KNOCK-IN MOUSE MODEL DEMONSTRATES THAT THE R49C MUTATION IN {alpha}A-CRYSTALLIN ENHANCES PROTEIN INSOLUBILITY AND CELL DEATH J. Biol. Chem., February 29, 2008; 283(9): 5801 - 5814. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Shinar, I. Kuchuk, S. Menasherow, M. Kolet, M. Lidar, P. Langevitz, and A. Livneh Unique spectrum of MEFV mutations in Iranian Jewish FMF patients clinical and demographic significance Rheumatology, November 1, 2007; 46(11): 1718 - 1722. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. P. G Ponnam, K. Ramesha, S. Tejwani, B. Ramamurthy, and C. Kannabiran Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract J. Med. Genet., July 1, 2007; 44(7): e85 - e85. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Shiels and J. F. Hejtmancik Genetic Origins of Cataract Arch Ophthalmol, February 1, 2007; 125(2): 165 - 173. [Full Text] [PDF]
|
|
|
|
|
|
F. Beby, C. Commeaux, M. Bozon, P. Denis, P. Edery, and L. Morle New Phenotype Associated With an Arg116Cys Mutation in the CRYAA Gene: Nuclear Cataract, Iris Coloboma, and Microphthalmia Arch Ophthalmol, February 1, 2007; 125(2): 213 - 216. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C.-h. Xia, H. Liu, B. Chang, C. Cheng, D. Cheung, M. Wang, Q. Huang, J. Horwitz, and X. Gong Arginine 54 and Tyrosine 118 Residues of {alpha}A-Crystallin Are Crucial for Lens Formation and Transparency. Invest. Ophthalmol. Vis. Sci., July 1, 2006; 47(7): 3004 - 3010. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Goishi, A. Shimizu, G. Najarro, S. Watanabe, R. Rogers, L. I. Zon, and M. Klagsbrun {alpha}A-crystallin expression prevents {gamma}-crystallin insolubility and cataract formation in the zebrafish cloche mutant lens Development, July 1, 2006; 133(13): 2585 - 2593. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Liu, X. Zhang, L. Luo, M. Wu, R. Zeng, G. Cheng, B. Hu, B. Liu, J. J. Liang, and F. Shang A Novel {alpha}B-Crystallin Mutation Associated with Autosomal Dominant Congenital Lamellar Cataract. Invest. Ophthalmol. Vis. Sci., March 1, 2006; 47(3): 1069 - 1075. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Y. Lee, H. R. Kast-Woelbern, J. Chang, G. Luo, S. A. Jones, M. C. Fishbein, and P. A. Edwards {alpha}-Crystallin Is a Target Gene of the Farnesoid X-activated Receptor in Human Livers J. Biol. Chem., September 9, 2005; 280(36): 31792 - 31800. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. V. Sergeev, L. V. Soustov, E. V. Chelnokov, N. M. Bityurin, P. S. Backlund Jr, P. T. Wingfield, M. A. Ostrovsky, and J. F. Hejtmancik Increased Sensitivity of Amino-Arm Truncated {beta}A3-Crystallin to UV-Light-Induced Photoaggregation Invest. Ophthalmol. Vis. Sci., September 1, 2005; 46(9): 3263 - 3273. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Liu, X. Du, M. Wang, Q. Huang, L. Ding, H. W. McDonald, J. R. Yates III, B. Beutler, J. Horwitz, and X. Gong Crystallin {gamma}B-I4F Mutant Protein Binds to {alpha}-Crystallin and Affects Lens Transparency J. Biol. Chem., July 1, 2005; 280(26): 25071 - 25078. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. A. Riazuddin, A. Yasmeen, Q. Zhang, W. Yao, M. F. Sabar, Z. Ahmed, S. Riazuddin, and J. F. Hejtmancik A New Locus for Autosomal Recessive Nuclear Cataract Mapped to Chromosome 19q13 in a Pakistani Family Invest. Ophthalmol. Vis. Sci., February 1, 2005; 46(2): 623 - 626. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. T. Santhiya, S. M. Manisastry, D. Rawlley, R. Malathi, S. Anishetty, P. M. Gopinath, P. Vijayalakshmi, P. Namperumalsamy, J. Adamski, and J. Graw Mutation Analysis of Congenital Cataracts in Indian Families: Identification of SNPs and a New Causative Allele in CRYBB2 Gene Invest. Ophthalmol. Vis. Sci., October 1, 2004; 45(10): 3599 - 3607. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Smaoui, O. Beltaief, S. BenHamed, R. M'Rad, F. Maazoul, A. Ouertani, H. Chaabouni, and J. F. Hejtmancik A Homozygous Splice Mutation in the HSF4 Gene Is Associated with an Autosomal Recessive Congenital Cataract Invest. Ophthalmol. Vis. Sci., August 1, 2004; 45(8): 2716 - 2721. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Pras, J. Raz, V. Yahalom, M. Frydman, H. J. Garzozi, E. Pras, and J. F. Hejtmancik A Nonsense Mutation in the Glucosaminyl (N-acetyl) Transferase 2 Gene (GCNT2): Association with Autosomal Recessive Congenital Cataracts Invest. Ophthalmol. Vis. Sci., June 1, 2004; 45(6): 1940 - 1945. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Ferrini, D. F. Schorderet, P. Othenin-Girard, S. Uffer, E. Heon, and F. L. Munier CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype Invest. Ophthalmol. Vis. Sci., May 1, 2004; 45(5): 1436 - 1441. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A T Moore Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract Br J Ophthalmol, January 1, 2004; 88(1): 2 - 3. [Full Text]
|
|
|
|
|
|
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, and M M Sale Investigation of crystallin genes in familial cataract, and report of two disease associated mutations Br J Ophthalmol, January 1, 2004; 88(1): 79 - 83. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Posner A Comparative View of Alpha Crystallins: The contribution of comparative studies to understanding function Integr. Comp. Biol., August 1, 2003; 43(4): 481 - 491. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Khaliq, A. Hameed, M. Ismail, K. Anwar, and S. Q. Mehdi A Novel Locus for Autosomal Dominant Nuclear Cataract Mapped to Chromosome 2p12 in a Pakistani Family Invest. Ophthalmol. Vis. Sci., July 1, 2002; 43(7): 2083 - 2087. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, and E Pras A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts J. Med. Genet., January 1, 2002; 39(1): 54 - 57. [Full Text] [PDF]
|
|
|
|
|
|
J. Graw, J. Loster, D. Soewarto, H. Fuchs, B. Meyer, A. Reis, E. Wolf, R. Balling, and M. H. de Angelis Characterization of a New, Dominant V124E Mutation in the Mouse {alpha}A-Crystallin-Encoding Gene Invest. Ophthalmol. Vis. Sci., November 1, 2001; 42(12): 2909 - 2915. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
