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Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy

Tsujikawa, Motokazu, MD, PhD

doi: 10.1097/ICO.0000000000001751
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Abstract: Gelatinous drop-like corneal dystrophy (GDLD; OMIM: 204870) is an autosomal recessive Mendelian-inherited disease. Subepithelial amyloid deposition results in severe visual impairment. Its pathogenesis remains unknown. Identification of the responsible gene is a useful approach to investigating the pathogenesis of genetic diseases. Such an identification is also necessary for the creation of genetic models. For this purpose, our group performed positional cloning using homozygosity mapping. The results revealed that GDLD maps to the short arm of chromosome 1. Subsequent mutation analyses identified tumor-associated calcium signal transducer 2 (TACSTD2; former name, M1S1) as the gene responsible for GDLD. After identification of the gene, we examined the phylogenetical distribution of TACSTD2 in the genomes of vertebrates.

Department of Visual Regenerative Medicine, Osaka University Graduate School of Medicine, Suita, Japan. Dr. Tsujikawa is now with the Department of Biomedical Informatics, Division of Health Sciences, Osaka University Graduate School of Medicine.

Correspondence: Motokazu Tsujikawa, MD, PhD, Department of Biomedical Informatics, Division of Health Sciences, Osaka University Graduate School of Medicine, 1-1-7 Yamadaoka, Suita 565-0871, Japan (e-mail: moto@ophthal.med.osaka-u.ac.jp).

This study was funded by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology (to M.T.).

The author has no funding or conflicts of interest to disclose.

Received June 28, 2018

Received in revised form July 23, 2018

Accepted July 28, 2018

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