Two novel mutations identified in two Chinese gelatinousdrop-like corneal dystrophy families

[摘要] Purpose: To identify the genetic defect in the TACSTD2 gene thatcauses gelatinous drop-like corneal dystrophy (GDLD) in two unrelatedconsanguineous Chinese families.Methods: Genomic DNA was prepared from leukocytes of peripheralvenous blood. The coding region of the TACSTD2 gene was evaluated bymeans of polymerase chain reaction and direct sequencing.Results: Sequencing of the TACSTD2 gene of the two probandsrevealed two novel homozygous frameshift mutations: c.84insG andc.480delC. The identified molecular defect cosegregates with the diseaseamong affected members of the families and is not found in 50 unaffectedcontrols.Conclusions: This study reports two novel mutations in two GDLDfamilies and expands the spectrum of mutations in TACSTD2 gene thatmay cause pathological corneal amyloidosis.

[学科分类] 生物化学/生物物理