Table 1. Summary of Molecular Genetic Testing Used in TP63-Related Disorders

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
TP63Sequence analysis 4Sequence variants75%-100%
Sequence analysis of select exonsSequence variants of select exons 575%-100%
Deletion/ duplication analysis 6Exonic and whole-gene deletions Unknown 7

1. See Table A. Genes and Databases for chromosome locus and protein name.

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. 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.

5. Exons 5-8, 13, 14. Selected exons for sequencing may vary by laboratory.

6. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted chromosomal microarray analysis (gene/segment-specific) may be used. A full chromosomal microarray analysis that detects deletions/duplications across the genome may also include this gene/segment.

7. No exonic or whole-gene deletions or duplications involving TP63 have been reported as causative of TP63-related disorders. Therefore, the mutation detection frequency is unknown.

From: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

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