Abstract
We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane.
Highlights
Gelatinous drop-like corneal dystrophy (GDLD; OMIM:204870) is a rare corneal dystrophy
Sequencing analysis of the tumor-associated calcium signal transducer 2 (TACSTD2) gene revealed that the patient had a novel homozygous deletion of G at the
The TACSTD2 protein binds to the CLDN1 and CLDN7 proteins to prevent the degradation of these two molecules
Summary
Gelatinous drop-like corneal dystrophy (GDLD; OMIM:204870) is a rare corneal dystrophy. GDLD is an autosomal recessive disease characterized by the deposition of amyloid in the subepithelial region of the bilateral corneas. As amyloid deposition increases and corneal neovascularization covers the corneal surface, visual acuity becomes severely impaired. We successfully identified the disease-causing gene, tumor-associated calcium signal transducer 2 (TACSTD2;NM_002353), thereby enabling us to investigate the molecular bases of GDLD2–4. 31 different GDLD-causing alterations of the TACSTD2 gene (11 missense, 7 nonsense, and 13 frameshift mutations) have been reported to our knowledge[5,6,7,8,9,10,11,12,13,14,15,16]. We identified a novel homozygous frameshift mutation in the TACSTD2 gene in a Japanese family with GDLD and evaluated the pathogenic effect of the mutation
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