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- Title
A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis.
- Authors
Nagahara, Yukiko; Tsujikawa, Motokazu; Takigawa, Toru; Xu, Peng; Kai, Chifune; Kawasaki, Satoshi; Nakatsukasa, Mina; Inatomi, Tsutomu; Kinoshita, Shigeru; Nishida, Kohji
- 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. Eye disorder: Novel mutation linked to rare corneal disease DNA sequencing of a gene linked to gelatinous drop-like corneal dystrophy (GDLD) has revealed a novel disease-causing mutation responsible for the rare hereditary eye disorder. A team from Japan led by Motokazu Tsujikawa from Osaka University treated a 44-year-old man with vision problems. The characteristic grayish deposits of amyloid protein in the otherwise clear front surface of the man's eyes led the researchers to suspect the patient had GDLD. Analysis of the TACSTD2 gene, which is often mutated in affected individuals, revealed two copies of the same tiny deletion, a mutation that caused both gene copies to encode a shortened protein. Cell experiments showed that the defective protein could no longer bind and properly position other proteins within the cornea to form the outer epithelial barrier. The findings could aid in future diagnoses of GDLD.
- Subjects
CORNEAL dystrophies; FRAMESHIFT mutation; CELLULAR signal transduction; NUCLEOTIDE sequencing; CLAUDINS
- Publication
Human Genome Variation, 2019, Vol 6, Issue 1, pN.PAG
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-019-0060-z