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Updated: Jul 13, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families
Bei Zhang1, Yu-Feng Yao, Ping Zhou
1Department of Ophthalmology, Affiliated Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Zhejiang, PR China.
Purpose:
To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families.
Methods:
Genomic DNA was prepared from leukocytes of peripheral venous blood. The coding region of the TACSTD2 gene was evaluated by means of polymerase chain reaction and direct sequencing.
Results:
Sequencing of the TACSTD2 gene of the two probands revealed two novel homozygous frameshift mutations: c.84insG and c.480delC. The identified molecular defect cosegregates with the disease among affected members of the families and is not found in 50 unaffected controls.
Conclusions:
This study reports two novel mutations in two GDLD families and expands the spectrum of mutations in TACSTD2 gene that may cause pathological corneal amyloidosis.
