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Mutation screening of HSF4 in 150 age-related cataract patients.
Mol Vis. 2008; 14:1850-5.MV

Abstract

PURPOSE

Heat shock transcription factor 4 (HSF4) regulates the expression of several heat shock protein (HSP) genes. HSPs are one of the major components responsible for lens protein organization. Recently, we found that mutations of HSF4 result in hereditary cataract. In this study, we explore the role of HSF4 in the development of age-related cataract.

METHODS

We screened sequence variants of HSF4 in age-related cataract patients and the natural population from Shanghai, China.

RESULTS

In individuals of natural populations, we detected no single nucleotide polymorphism (SNP) with a frequency higher than 5% in a complete coding region or in their exon-intron boundaries. In 150 age-related cataract patients, we identified seven sequence changes. We found an intronic G-->A transition (c.1020-25G>A) in one patient, a missense mutation (c.1078A>G) in exon 4 in two patients, a silent mutation (c.1223 C>T) in exon 5 in two patients, an intronic C-->T transition (c.1256+25C>T) in one patient, and a silent mutation in exon 6 (c.1286 C>T) in one patient. These five variants were not represented in 220 control individuals. We also identified an intronic C-->T transition (c.1019+9C>T) and a missense mutation (c.1243G>A) in exon 3 in three patients, but these two variants were also present in 100 control subjects.

CONCLUSIONS

We identified five new HSF4 mutations in 150 age-related cataract patients, enlarging the spectrum of HSF4 mutations in cataract patients. This result indicates that HSF4 mutations account for only a small fraction of age-related cataracts.

Authors+Show Affiliations

Institute of Health Science, Shanghai Institutes for Biological Sciences of CAS and Ruijin Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, 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 available

Pub Type(s)

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

Language

eng

PubMed ID

18941546

Citation

Shi, Yuefeng, et al. "Mutation Screening of HSF4 in 150 Age-related Cataract Patients." Molecular Vision, vol. 14, 2008, pp. 1850-5.
Shi Y, Shi X, Jin Y, et al. Mutation screening of HSF4 in 150 age-related cataract patients. Mol Vis. 2008;14:1850-5.
Shi, Y., Shi, X., Jin, Y., Miao, A., Bu, L., He, J., Jiang, H., Lu, Y., Kong, X., & Hu, L. (2008). Mutation screening of HSF4 in 150 age-related cataract patients. Molecular Vision, 14, 1850-5.
Shi Y, et al. Mutation Screening of HSF4 in 150 Age-related Cataract Patients. Mol Vis. 2008;14:1850-5. PubMed PMID: 18941546.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation screening of HSF4 in 150 age-related cataract patients. AU - Shi,Yuefeng, AU - Shi,Xiaohe, AU - Jin,Yiping, AU - Miao,Aizhu, AU - Bu,Lei, AU - He,Jianyong, AU - Jiang,Haisong, AU - Lu,Yi, AU - Kong,Xiangyin, AU - Hu,Landian, Y1 - 2008/10/20/ PY - 2008/07/10/received PY - 2008/10/09/accepted PY - 2008/10/23/pubmed PY - 2008/12/17/medline PY - 2008/10/23/entrez SP - 1850 EP - 5 JF - Molecular vision JO - Mol. Vis. VL - 14 N2 - PURPOSE: Heat shock transcription factor 4 (HSF4) regulates the expression of several heat shock protein (HSP) genes. HSPs are one of the major components responsible for lens protein organization. Recently, we found that mutations of HSF4 result in hereditary cataract. In this study, we explore the role of HSF4 in the development of age-related cataract. METHODS: We screened sequence variants of HSF4 in age-related cataract patients and the natural population from Shanghai, China. RESULTS: In individuals of natural populations, we detected no single nucleotide polymorphism (SNP) with a frequency higher than 5% in a complete coding region or in their exon-intron boundaries. In 150 age-related cataract patients, we identified seven sequence changes. We found an intronic G-->A transition (c.1020-25G>A) in one patient, a missense mutation (c.1078A>G) in exon 4 in two patients, a silent mutation (c.1223 C>T) in exon 5 in two patients, an intronic C-->T transition (c.1256+25C>T) in one patient, and a silent mutation in exon 6 (c.1286 C>T) in one patient. These five variants were not represented in 220 control individuals. We also identified an intronic C-->T transition (c.1019+9C>T) and a missense mutation (c.1243G>A) in exon 3 in three patients, but these two variants were also present in 100 control subjects. CONCLUSIONS: We identified five new HSF4 mutations in 150 age-related cataract patients, enlarging the spectrum of HSF4 mutations in cataract patients. This result indicates that HSF4 mutations account for only a small fraction of age-related cataracts. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/18941546/Mutation_screening_of_HSF4_in_150_age_related_cataract_patients_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18941546/ DB - PRIME DP - Unbound Medicine ER -