Tags

Type your tag names separated by a space and hit enter

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.
Invest Ophthalmol Vis Sci. 2006 Aug; 47(8):3461-6.IO

Abstract

PURPOSE

A four-generation Chinese family with 13 members affected with autosomal dominant congenital posterior polar cataract was studied. The purpose of this study was to identify the disease-causing gene in the family and to validate that mutations in CRYAB, the alphaB-crystallin gene, cause the congenital cataract.

METHODS

Linkage analysis was performed with a panel of microsatellite markers flanking candidate genetic loci for cataracts, including 14 known autosomal dominant congenital cataract (ADCC) genes. For mutation analysis, the complete coding region and exon-intron boundaries of CRYAB were sequenced with DNA from the proband. Single-strand conformation polymorphism (SSCP) analysis for exon 1 of CRYAB was performed in all family members and 200 normal control subjects.

RESULTS

The disease gene in the Chinese family was mapped to chromosome 11 in region q22-22.3 with a maximum lod score of 4.52. Direct DNA sequence of CRYAB revealed a heterozygous C-->T transition at nucleotide 58, resulting in a novel 58 C-->T (Pro20Ser) mutation. The Pro20Ser mutation cosegregated with all affected individuals and was not present in unaffected members in the family or in 200 normal control subjects. The mutation occurs at the evolutionarily conserved residue Pro20 in the N-terminal region of alphaB-crystallin.

CONCLUSIONS

To date, only one CRYAB mutation has been associated with congenital isolated cataract. This study identified a second novel mutation in CRYAB in a large Chinese cataract family. Together, these results provide strong evidence that CRYAB is a pathogenic gene for congenital cataract.

Authors+Show Affiliations

Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, Peoples Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16877416

Citation

Liu, Mugen, et al. "Identification of a CRYAB Mutation Associated With Autosomal Dominant Posterior Polar Cataract in a Chinese Family." Investigative Ophthalmology & Visual Science, vol. 47, no. 8, 2006, pp. 3461-6.
Liu M, Ke T, Wang Z, et al. Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophthalmol Vis Sci. 2006;47(8):3461-6.
Liu, M., Ke, T., Wang, Z., Yang, Q., Chang, W., Jiang, F., Tang, Z., Li, H., Ren, X., Wang, X., Wang, T., Li, Q., Yang, J., Liu, J., & Wang, Q. K. (2006). Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Investigative Ophthalmology & Visual Science, 47(8), 3461-6.
Liu M, et al. Identification of a CRYAB Mutation Associated With Autosomal Dominant Posterior Polar Cataract in a Chinese Family. Invest Ophthalmol Vis Sci. 2006;47(8):3461-6. PubMed PMID: 16877416.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. AU - Liu,Mugen, AU - Ke,Tie, AU - Wang,Zhaoxiang, AU - Yang,Qinbo, AU - Chang,Wei, AU - Jiang,Fagang, AU - Tang,Zhaohui, AU - Li,Hui, AU - Ren,Xiang, AU - Wang,Xu, AU - Wang,Tao, AU - Li,Qingchun, AU - Yang,Junguo, AU - Liu,Jingyu, AU - Wang,Qing Kenneth, PY - 2006/8/1/pubmed PY - 2006/9/1/medline PY - 2006/8/1/entrez SP - 3461 EP - 6 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 47 IS - 8 N2 - PURPOSE: A four-generation Chinese family with 13 members affected with autosomal dominant congenital posterior polar cataract was studied. The purpose of this study was to identify the disease-causing gene in the family and to validate that mutations in CRYAB, the alphaB-crystallin gene, cause the congenital cataract. METHODS: Linkage analysis was performed with a panel of microsatellite markers flanking candidate genetic loci for cataracts, including 14 known autosomal dominant congenital cataract (ADCC) genes. For mutation analysis, the complete coding region and exon-intron boundaries of CRYAB were sequenced with DNA from the proband. Single-strand conformation polymorphism (SSCP) analysis for exon 1 of CRYAB was performed in all family members and 200 normal control subjects. RESULTS: The disease gene in the Chinese family was mapped to chromosome 11 in region q22-22.3 with a maximum lod score of 4.52. Direct DNA sequence of CRYAB revealed a heterozygous C-->T transition at nucleotide 58, resulting in a novel 58 C-->T (Pro20Ser) mutation. The Pro20Ser mutation cosegregated with all affected individuals and was not present in unaffected members in the family or in 200 normal control subjects. The mutation occurs at the evolutionarily conserved residue Pro20 in the N-terminal region of alphaB-crystallin. CONCLUSIONS: To date, only one CRYAB mutation has been associated with congenital isolated cataract. This study identified a second novel mutation in CRYAB in a large Chinese cataract family. Together, these results provide strong evidence that CRYAB is a pathogenic gene for congenital cataract. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/16877416/Identification_of_a_CRYAB_mutation_associated_with_autosomal_dominant_posterior_polar_cataract_in_a_Chinese_family_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.05-1438 DB - PRIME DP - Unbound Medicine ER -