Compound heterozygou mutation of M11 gene in gelatinou droplike corneal dytrophy

Purpoe To report the genetic finding in a Chinee patient diagnoed with gelatinou droplike corneal dytrophy (GDLD). Deign Cae report and experimental tudy. Method Molecular genetic analyi wa performed on the DNA extracted from peripheral leukocyte from a Chinee patient with GDLD and hi unaffected parent. Fifty healthy, unrelated, Chinee participant were ued a control ubject. The M11 gene wa amplified by polymerae chain reaction and directly equenced. Reult The patient wa clinically diagnoed with GDLD. Direct equencing of the M11 gene revealed heterozygou change in both allele, a novel Y184C mutation on one allele and a Q118X mutation on the other that wa reported a a founder mutation in the Japanee population. The patientʹ unaffected parent howed only the heterozygou Q118X or Y184C mutation. The mutation wa not detected in the 50 unaffected ubject. Concluion Thi i the firt genetic analyi of a Chinee patient with GDLD. Becaue the compound heterozygote mutation Q118X and Y184C coegregated with the phenotype, they are likely the caue of GDLD in thi patient.