Disruption of PTPRF in a Patient with Syndromic Amastia
Author Information
Author(s): Ausavarat Surasawadee, Tongkobpetch Siraprapa, Praphanphoj Verayuth, Mahatumarat Charan, Rojvachiranonda Nond, Snabboon Thiti, Markello Thomas C, Gahl William A, Suphapeetiporn Kanya, Shotelersuk Vorasuk
Primary Institution: Chulalongkorn University, Bangkok, Thailand
Hypothesis
Is there a genetic basis for syndromic amastia in the patient studied?
Conclusion
The study identified a disruption in the PTPRF gene associated with syndromic amastia in the patient.
Supporting Evidence
- The patient exhibited bilateral amastia and ectodermal dysplasia.
- A balanced translocation was identified on chromosome 1.
- PTPRF RNA levels were significantly lower in the patient compared to her family members.
- Western blot analysis showed nearly absent PTPRF protein in the patient.
Takeaway
The study found that a woman with no breasts had a gene that was broken, which might explain her condition.
Methodology
The study involved clinical characterization, cytogenetic analysis, quantitative real-time PCR, and western blotting.
Limitations
The study was limited to a single case, and no pathogenic mutations were identified despite the gene disruption.
Participant Demographics
An 18-year-old Thai woman with syndromic amastia.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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