A novel mutation of M11 gene found in a Vietnamee patient with gelatinou droplike corneal dytrophy

Purpoe To identify the genetic defect in the M11 gene reponible for gelatinou droplike corneal dytrophy (GDLD) in a Vietnamee family. Deign Experimental tudy. Method Blood ample were collected from a patient and the unaffected member of a GDLD-affected family. Fifty normal unrelated ubject of Vietnamee origin were ued a control. Genomic DNA wa extracted from blood leukocyte. DNA analyi of the M11 gene wa performed uing polymerae chain reaction and direct equencing. Reult equencing of the M11 gene revealed a deletion of a 12–bae-pair (bp) fragment from nucleotide poition 772 to 783 [772 to 783del(ATCTATTACCTG)], reulting in a lo of four amino acid at codon 258 to 261 (L258-liter261del). Yet, an inertion of nucleotide T in place of the miing equence (772inT) wa found. Thi combined mutation wa homozygou in the GDLD-affected patient and heterozygou in hi unaffected on and younger iter. uch genetic alteration wa excluded in the control population. Concluion Thi i the firt report of a mutational analyi performed in a Vietnamee patient with GDLD. In thi family, the novel 772 to 783del(ATCTATTACCTG) + 772inT mutation on the M11 gene wa well coegregated with the phenotype and thu expected to caue GDLD. Although the M11 gene wa reponible for GDLD in Vietnamee patient, the mutation found here i completely different from that previouly reported in Japanee patient, where GDLD i mot frequently een.