Abstract for presentation at 11th International Congress of Human Genetics

M1S1 gene analysis for gelatinous drop-like corneal dystrophy in Asian district

  • Akira Murakami, Department of Ophthalmology, Juntendo University School of Medicine, Japan
  • Nguyen Ha, The National Institute of Ophthalmology, Hanoi, Vietnam, Vietnam
  • Hoang Chau, The National Institute of Ophthalmology, Hanoi, Vietnam, Vietnam
  • Xin Tian, Ophthalmic Center, Third Hospital Peijing University, China
  • Zuguo Liu, Ophthalmic Center, Third Hospital Peijing University, Zhongshan Ophthalmic Center, Ocular Surface Center, Sun Yat-sen Universit, China
  • Keiko Fujiki, Department of Ophthalmology, Juntendo University School of Medicine, Japan
  • Atsushi Kanai, Department of Ophthalmology, Juntendo University School of Medicine, Japan

    • Purpose: To analyze a responsible gene, membrane component, chromosome 1, surface marker 1 (M1S1), for gelatinous drop-like corneal dystrophy (GDLD, OMIM 204870) and to compare the mutations in patients with three different ethnic background.
    Methods: Genomic DNA was extracted from leukocytes of peripheral blood of 15 patients and 20 unaffected relatives (10 Japanese families), 5 patients and 4 unaffected relatives (5 Vietnamese families), and one patient and unaffected parents (one Chinese family) after obtaining informed consent. The M1S1 gene was amplified by polymerase chain reaction (PCR) and directly sequenced. As control, fifty healthy subjects from Japanese, Vietnamese and Chinese were analyzed, respectively.
    Results: In the Japanese patients, homozygous Q118X mutation was detected in 11 patients from 7 families among 10 families, and compound heterozygous K84X/C108R and 937delT/Q118X mutation was detected in 2 patients and one patient from each one family, respectively. The remaining one family was no mutation in the M1S1 gene. In the Vietnamese patients, homozygous codon258-261del+insT and codon81insC were detected in each one family. Remaining 3 families were no mutation in the M1S1 gene. In the Chinese patient, compound heterozygous Y184C/Q118X was detected. These mutations were excluded in the each control subjects.
    Conclusion: Although the M1S1 gene was responsible for GDLD in Japanese, Vietnamese and Chinese patients, the mutation found in the Vietnamese patients was completely different from that in the Japanese and the Chinese. The Q118X mutation seen most frequently in the Japanese patients has been considered to be founder mutation. The fact that the Q118X mutation was detected in a Chinese patient and his father is interesting. Existence of GDLD patients with no mutation in the M1S1 gene suggests genetic heterogeneity in the GDLD.

    Conference Organiser - ICMS Pty Ltd