Table 1.

Molecular Genetic Testing Used in PNPLA6 Disorders

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
PNPLA6 Sequence analysis 3>97% 4
Deletion/duplication analysis 5<3% are gross deletions or duplications. 4, 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 missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
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.

An intragenic duplication of exons 14-20 in PNPLA6 was reported in one individual with Oliver-McFarlane syndrome [Hufnagel et al 2015].

From: PNPLA6 Disorders

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