2. Academic Validation
  3. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

  • Nat Genet. 2002 Jul;31(3):276-8. doi: 10.1038/ng921.
Lei Bu 1,  Yiping Jin,  Yuefeng Shi,  Renyuan Chu,  Airong Ban,  Hans Eiberg,  Lisa Andres,  Haisong Jiang,  Guangyong Zheng,  Meiqian Qian,  Bin Cui,  Yu Xia,  Jing Liu,  Landian Hu,  Guoping Zhao,  Michael R Hayden,  Xiangyin Kong
Affiliations

Affiliation

  • 1 Shanghai Research Center of Biotechnology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200233, People's Republic of China.
PMID: 12089525 DOI: 10.1038/ng921
Abstract

Congenital cataracts cause 10-30% of all blindness in children, with one-third of cases estimated to have a genetic cause. Lamellar cataract is the most common type of infantile cataract. We carried out whole-genome linkage analysis of Chinese individuals with lamellar cataract, and found that the disorder is associated with inheritance of a 5.11-cM locus on chromosome 16. This locus coincides with one previously described for Marner cataract. We screened individuals of three Chinese families for mutations in HSF4 (a gene at this locus that encodes heat-shock transcription factor 4) and discovered that in each family, a distinct missense mutation, predicted to affect the DNA-binding domain of the protein, segregates with the disorder. We also discovered an association between a missense mutation and Marner cataract in an extensive Danish family. We suggest that HSF4 is critical to lens development.

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