| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
1From the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; the 2Department of Ophthalmology, Meir Hospital, Sapir Medical Center, Kfar-Saba, Israel; the 3National Blood Group Reference Laboratory, Magen David Adom-National Blood Services Center, and the 4Danek Gartener Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; and the 5Department of Ophthalmology, Bnai-Zion Medical Center, Haifa, Israel.
PURPOSE. To identify the genetic defect associated with autosomal recessive congenital cataract in four Arab families from Israel.
METHODS. Genotyping was performed using microsatellite markers spaced at approximately 10 cM intervals. Two-point lod scores were calculated using MLINK of the LINKAGE program package. Mutation analysis of the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2) gene was performed by direct sequencing of PCR-amplified exons.
RESULTS. The cataract locus was mapped to a 13.0-cM interval between D6S470 and D6S289 on Chr. 6p24. A maximum two-point lod score of 8.75 at 
= 0.019 was obtained with marker D6S470. Sequencing exons of the GCNT2 gene, mutations of which have been associated with cataracts and the i blood group phenotype, revealed in these families a homozygous G
A substitution in base 58 of exon-2, resulting in the formation of premature stop codons W328X, W326X, and W328X, of the GCNT2A, -B, and -C isoforms, respectively. Subsequent blood typing of affected family members confirmed the possession of the rare adult i blood group phenotype.
CONCLUSIONS. A nonsense mutation in the GCNT2 gene isoforms is associated with autosomal recessive congenital cataract in four distantly related Arab families from Israel. These findings provide further insight into the dual role of the I-branching GCNT2 gene in the lens and in reticulocytes.
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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
E Pras, O Mahler, V Kumar, M Frydman, N Gefen, E Pras, and J F Hejtmancik A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. J. Med. Genet., October 1, 2006; 43(10): e50 - e50. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Liu, T. Ke, Z. Wang, Q. Yang, W. Chang, F. Jiang, Z. Tang, H. Li, X. Ren, X. Wang, et al. Identification of a CRYAB Mutation Associated with Autosomal Dominant Posterior Polar Cataract in a Chinese Family. Invest. Ophthalmol. Vis. Sci., August 1, 2006; 47(8): 3461 - 3466. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. A. Riazuddin, F. Zulfiqar, Q. Zhang, Y. V. Sergeev, Z. A. Qazi, T. Husnain, R. Caruso, S. Riazuddin, P. A. Sieving, and J. F. Hejtmancik Autosomal Recessive Retinitis Pigmentosa Is Associated with Mutations in RP1 in Three Consanguineous Pakistani Families Invest. Ophthalmol. Vis. Sci., July 1, 2005; 46(7): 2264 - 2270. [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]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
