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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to
Africa Manero-Azua1, Arrate Pereda1, Isabel Llano-Rivas2
1Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Frontiers in Genetics
|October 19, 2023
Summary
Genetic testing for Silver-Russell syndrome unexpectedly revealed a 22q deletion syndrome in a young girl. This case highlights the importance of discussing potential incidental findings during genetic counseling.
Area of Science:
- Genetics
- Pediatrics
- Medical Ethics
Background:
- New generation sequencing enables detection of findings unrelated to the primary study.
- This possibility is often overlooked in single-gene or single-region analyses.
- A 16-month-old girl presented with clinical suspicion of Silver-Russell syndrome (SRS).
Purpose of the Study:
- To report an incidental finding during genetic analysis for SRS.
- To emphasize the importance of informed consent regarding unexpected genetic results.
- To highlight the diagnostic value of considering incidental findings in pediatric cases.
Main Methods:
- Methylation alterations and copy number variations (CNVs) at 11p15 and maternal uniparental disomy of chromosome 7 were analyzed using MS-MLPA.
- An unexpected decrease in a copy number reference probe signal was observed.
- Independent techniques were used to confirm the alteration, leading to further diagnostic investigation.
Main Results:
- Initial MS-MLPA analysis for SRS was inconclusive for the suspected condition.
- An incidental finding of a potential deletion in the 11p15 region was detected.
- Subsequent investigations led to the definitive diagnosis of 22q deletion syndrome.
Conclusions:
- Genetic testing can yield unexpected incidental findings, even in targeted analyses.
- Pre-test genetic counseling must inform patients about the possibility of incidental findings.
- Informed consent should include options for receiving unexpected results to aid diagnosis and treatment.
