Genetic Variants in Japanese Patients with Sarcoglycanopathy
Author Information
Author(s): Shimazaki Rui, Saito Yoshihiko, Awaya Tomonari, Minami Narihiro, Kurosawa Ryo, Hosokawa Motoyasu, Ohara Hiroaki, Hayashi Shinichiro, Takeuchi Akihide, Hagiwara Masatoshi, Hayashi Yukiko K., Nishino Ichizo
Primary Institution: National Center of Neurology and Psychiatry
Hypothesis
This study aims to profile the genetic variants that cause sarcoglycanopathies in Japanese patients.
Conclusion
The study identified common genetic variants in Japanese patients with sarcoglycanopathies, which will aid in genetic diagnosis and potential gene therapy.
Supporting Evidence
- Biallelic variants in SGC genes were identified in 53 families.
- SGCA was the most common causative gene, accounting for 56% of cases.
- Missense variants in SGCA were very frequent at 78.3%.
- The study identified three families with LGMDR6, previously unreported in Japan.
Takeaway
Doctors looked at the genes of people in Japan who have a rare muscle disease to find out what changes in their DNA cause the disease.
Methodology
The study involved retrospective review of clinical data and genetic analyses using various sequencing techniques.
Limitations
The study is limited to Japanese patients and may not represent the genetic diversity of sarcoglycanopathies globally.
Participant Demographics
The study included 55 patients from 53 families with sarcoglycanopathy, primarily of Japanese descent.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website