在1例凝胶滴样角膜营养不良的日本患者中发现新错义突变

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy

To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD). Case report and experimental study. A 10- year-old Japanese boy suffering from typical GDLD was studied. A 1.1- kbDNA 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. 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. 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.