Genetic Study of Ataxia with Oculomotor Apraxia in Saudi Arabia
Author Information
Author(s): Bohlega Saeed A, Shinwari Jameela M, Al Sharif Latifa J, Khalil Dania S, Alkhairallah Thamer S, Al Tassan Nada A
Primary Institution: King Faisal Specialist Hospital and Research Center
Hypothesis
What are the genetic mutations associated with ataxia and oculomotor apraxia in Saudi patients?
Conclusion
Mutations in the SETX and MRE11 genes are common in patients with autosomal recessive ataxia and oculomotor apraxia.
Supporting Evidence
- A novel truncating mutation R2287X in SETX gene was identified in one family.
- The previously reported missense mutation W210C in MRE11 gene was identified in two families.
- No mutations were found in APTX gene in one family, indicating other potential causes.
Takeaway
The study looked at 9 patients with a specific type of ataxia and found important gene mutations that help explain their condition.
Methodology
Comprehensive sequencing of all coding exons of APTX, SETX, and MRE11 genes was performed.
Limitations
The study did not identify mutations in APTX gene in one family, suggesting other mechanisms may be involved.
Participant Demographics
Patients were from 4 unrelated consanguineous families in Saudi Arabia.
Digital Object Identifier (DOI)
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