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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
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The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients
Tadashi Inoue1,2, Ryuta Takase2, Keiko Uchida3,4
1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Journal of Human Genetics
|February 27, 2024
Summary
A TMEM260 gene variant (c.1617del) is strongly linked to persistent truncus arteriosus (PTA), a severe congenital heart defect, particularly in the Japanese population. This discovery highlights a major genetic cause for PTA.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Congenital heart disease (CHD) mechanisms are not fully understood.
- Genetic analysis is advancing the identification of CHD-causing genes.
Purpose of the Study:
- To identify genetic variants associated with persistent truncus arteriosus (PTA).
- To investigate the role of the TMEM260 gene in cardiac outflow tract defects.
Main Methods:
- Whole-exome sequencing was used to identify genetic variants.
- Western blotting and immunocytochemistry analyzed protein expression and localization.
- In situ hybridization examined gene expression patterns during embryogenesis.
Main Results:
- The TMEM260 c.1617del variant was identified in Japanese individuals with PTA.
- This variant is frequent in PTA patients, comparable to the 22q11.2 deletion.
- Mouse models showed TMEM260 variant causes protein truncation and aggregation.
- Tmem260 is expressed in the developing cardiac outflow tract.
Conclusions:
- The TMEM260 c.1617del variant is a significant single-gene cause of PTA in the Japanese population.
- TMEM260 plays a critical role in cardiac outflow tract development.
- Understanding this variant's role can inform diagnosis and potential therapies for PTA.
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