A novel miene mutation in a Japanee patient with gelatinou droplike corneal dytrophy

Purpoe To report a novel miene mutation in TACTD2 gene, L186P, reponible for gelatinou droplike dytrophy (GDLD). Deign Cae report and experimental tudy. Method A 10-year-old Japanee boy uffering from typical GDLD wa tudied. A 1.1-kb DNA fragment of the TACTD2 gene wa amplified and analyzed uing a molecular biological method. cDNA from the patientʹ cornea wa alo analyzed to determine which allele wa expreed in the patientʹ corneal epithelium. Reult equence analyi revealed that the patient i a compound heterozygote for the Q118X mutation and the L186P, the firt miene mutation found in Japanee GDLD. Polymerae chain reaction–retriction fragment length polymorphim analyi from cDNA of patientʹ cornea revealed that the L186P miene mutation allele i expreed in the patientʹ corneal epithelium. Concluion We decribe a novel mutation in one cae of Japanee GDLD. The reult confirm that the miene mutation L186P in the TACTD2 gene i alo reponible for the GDLD phenotype.