Table 1.

Summary of Molecular Genetic Testing Used in Feingold Syndrome 1

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
MYCN 4Sequence analysisSequence variants 565% 6
Deletion/duplication testing 7Exonic and partial-gene deletions10% 8
1.
2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a mutation that is present in the indicated gene

4.

Typical digital anomalies were absent in individuals with FS1 in whom no MYCN mutation was identified [Marcelis et al 2008], whereas these typical digital anomalies are present in more than 95% of individuals with FS1 who have MYCN mutations.

5.

Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

6.

Sequence analysis of all three exons of MYCN detected mutations in 65% of individuals/families with a clinical suspicion of Feingold syndrome 1 [Marcelis et al 2008].

7.

Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

8.

Deletion/duplication testing detects mutations in 10% of individuals/families with Feingold syndrome 1 [Marcelis et al 2008].

From: Feingold Syndrome 1

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