Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.
OBJECTIVE
To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD).


METHODS
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.
Tian
Xin
X
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. zuguol@yahoo.com
Fujiki
Keiko
K
Li
Qin
Q
Murakami
Akira
A
Xie
Peiying
P
Kanai
Atsushi
A
Wang
Wei
W
Liu
Zuguo
Z
D000293:Adolescent; D000328:Adult; D000951:Antigens, Neoplasm / Q000235:genetics*; D017252:CD3 Complex / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D000071858:Epithelial Cell Adhesion Molecule; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
D000951:Antigens, Neoplasm; D017252:CD3 Complex; D015815:Cell Adhesion Molecules; D000071858:Epithelial Cell Adhesion Molecule