Mutation in STK11 Gene Linked to Peutz-Jeghers Syndrome in Indian Patients
Author Information
Author(s): Thakur Nikita, Reddy D Nageshwar, Rao G Venkat, Mohankrishna P, Singh Lalji, Chandak Giriraj R
Primary Institution: Centre for Cellular and Molecular Biology
Hypothesis
Is there a novel mutation in the STK11 gene associated with Peutz-Jeghers Syndrome in Indian patients?
Conclusion
This study is the first to report a mutation in the STK11 gene in Indian Peutz-Jeghers Syndrome patients, suggesting that known mutations do not account for the disease in many cases.
Supporting Evidence
- A novel pathogenic mutation (c.790_793 delTTTG) was identified in one index patient and three family members.
- The mutation leads to a frame-shift and premature termination of the STK11 protein.
- The study suggests that large genomic deletions or another locus may be associated with Peutz-Jeghers Syndrome in India.
Takeaway
Scientists found a new change in a gene that might cause a rare disease in some Indian families, but many cases still don't have a clear cause.
Methodology
Sequencing of the promoter and coding regions of the STK11 gene in affected members from ten Indian Peutz-Jeghers Syndrome families.
Limitations
The study does not account for all cases of Peutz-Jeghers Syndrome in India, and the presence of other potential genetic factors remains unexplored.
Participant Demographics
Affected members from ten well-characterized Indian Peutz-Jeghers Syndrome families.
Digital Object Identifier (DOI)
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