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Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
Passara Jongkhajornpong1, Kaevalin Lekhanont1, Mayumi Ueta2
1Department of Ophthalmology, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand.
Human Genome Variation
|April 16, 2016
Summary
A novel TACSTD2 gene mutation causes gelatinous drop-like corneal dystrophy (GDLD) in a Thai family. This genetic finding explains the severe corneal amyloid deposits requiring surgery in affected individuals.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Gelatinous drop-like corneal dystrophy (GDLD) is a rare form of corneal amyloidosis.
- Previous research has not identified the specific genetic cause of GDLD in many families.
Purpose of the Study:
- To identify the genetic basis of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Thai family.
- To investigate the role of the TACSTD2 gene in the pathogenesis of GDLD.
Main Methods:
- Genetic analysis including whole-exome sequencing or targeted gene sequencing.
- Segregation analysis within the affected family.
- In silico analysis of the identified mutation's effect on protein structure.
Main Results:
- A novel homozygous mutation, c.79delC, was identified in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in affected family members.
- Unaffected parents were heterozygous carriers of the TACSTD2 mutation.
- The mutation is predicted to result in a truncated TACSTD2 protein.
Conclusions:
- The identified TACSTD2 gene mutation is the likely cause of gelatinous drop-like corneal dystrophy (GDLD) in this Thai family.
- This finding expands the known spectrum of TACSTD2-associated corneal diseases.
- Understanding the genetic etiology is crucial for potential future therapeutic strategies.
