A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.
OBJECTIVE
To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD).


METHODS
Case report and experimental study.


METHODS
A 10-year-old Japanese boy suffering from typical GDLD was studied. A 1.1-kb DNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient's cornea was also analyzed to determine which allele was expressed in the patient's corneal epithelium.


RESULTS
Sequence analysis revealed that the patient is a compound heterozygote for the Q118X mutation and the L186P, the first missense mutation found in Japanese GDLD. Polymerase chain reaction-restriction fragment length polymorphism analysis from cDNA of patient's cornea revealed that the L186P missense mutation allele is expressed in the patient's corneal epithelium.


CONCLUSIONS
We describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.
Taniguchi
Yukiko
Y
Department of Ophthalmology, Osaka University Medical School, Osaka, Japan.
Tsujikawa
Motokazu
M
Hibino
Sawako
S
Tsujikawa
Kaoru
K
Tanaka
Tatsuya
T
Kiridoushi
Akira
A
Tano
Yasuo
Y
D000951:Antigens, Neoplasm / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000032:analysis; D000071858:Epithelial Cell Adhesion Molecule; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D018076:DNA, Complementary; D000071858:Epithelial Cell Adhesion Molecule