Table 1.

Molecular Genetic Testing Used in Rhizomelic Chondrodysplasia Punctata Type 1

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
PEX7 Sequence analysis 397% 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1.

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

2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or 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.

4.

Sequence analysis of PEX7 coding and flanking intronic regions in 133 individuals with RCDP1 from the United States and the Netherlands identified 97% of pathogenic variants [Braverman et al 2002, Motley et al 2002]. Note: In all individuals with biochemically confirmed RCDP1, at least one pathogenic PEX7 variant was identified. See Table 6.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Exon and multiexon PEX7 deletions have been identified [N Braverman, unpublished].

From: Rhizomelic Chondrodysplasia Punctata Type 1

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