Table 1.

Summary of Molecular Genetic Testing Used in Inherited Systemic Hyalinosis

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
ANTXR2Sequence analysis 4Sequence variants 90% 5
Deletion/duplication analysis 6Multiexonic deletion or insertionUnknown 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.

Multiple mutations have been identified [Dowling et al 2003, Hanks et al 2003, El-Kamah et al 2010, Denadai et al 2012] (see Molecular Genetics).

6.

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.

7.

Shieh et al [2006], Denadai et al [2012]

From: Hyalinosis, Inherited Systemic

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