Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy
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Published on: August 8, 2022
Xin Tian1, Keiko Fujiki, Qin Li
1Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. zuguol@yahoo.com
Purpose:
To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD).
Design:
Case report and experimental study.
Methods:
Molecular genetic analysis was performed on the DNA extracted from peripheral leukocytes from a Chinese patient with GDLD and his unaffected parents. Fifty healthy, unrelated, Chinese participants were used as control subjects. The M1S1 gene was amplified by polymerase chain reaction and directly sequenced.
Results:
The patient was clinically diagnosed with GDLD. Direct sequencing of the M1S1 gene revealed heterozygous changes in both alleles, a novel Y184C mutation on one allele and a Q118X mutation on the other that was reported as a founder mutation in the Japanese population. The patient's unaffected parents showed only the heterozygous Q118X or Y184C mutation. The mutation was not detected in the 50 unaffected subjects.
Conclusions:
This is the first genetic analysis of a Chinese patient with GDLD. Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient.
