Table 1.

Summary of Molecular Genetic Testing Used in CDC73-Related Disorders

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
CDC73Sequence analysis 2Varies by phenotype 3
Deletion/duplication analysis 4Unknown 5
1.

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.

2.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

3.

Of families with a CDC73 germline pathogenic variant identified by sequencing, approximately 88% of variants could be detected by sequencing exons 1-7 and surrounding intron-exon junctions [Iacobone et al 2009, Newey et al 2010, Panicker et al 2010, Rekik et al 2010, Wang et al 2010, Cavaco et al 2011, Frank-Raue et al 2011, Pichardo-Lowden et al 2011, Siu et al 2011, Starker et al 2012, Kutcher et al 2013]. The remaining 12% of variants were found in exons 8 or 13-16.

4.

Testing that identifies exon or whole-gene deletions/duplications not 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.

5.

Complete deletion of CDC73 has been reported in two sisters with FIHP (young-onset cystic and recurrent parathyroid tumors) [Bricaire et al 2013] and in a kindred with HPT-JT (a male age 25 years with a cystic parathyroid adenoma and a woman with parathyroid carcinoma with initial onset of hypercalcemia at age 33 years) [Caron et al 2011, Cascón et al 2011, Domingues et al 2012].

From: CDC73-Related Disorders

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