Table 1.

Molecular Genetic Testing Used in Carnitine Palmitoyltransferase II Deficiency

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
CPT2 Sequence analysis 3>95% 4, 5
Gene-targeted deletion/duplication analysis 6None reported 7
1.

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

2.

See Molecular Genetics for information on allelic 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.

The following pathogenic variants are found with the approximate stated frequency in individuals who have the myopathic form: p.Ser113Leu in 60%; p.Lys414ThrfsTer7 in 20%; p.Pro50His, p.Arg503Cys, p.Gly549Asp, p.Lys414ThrfsTer7, and p.Met214Thr in 15% [Taggart et al 1999, Thuillier et al 2003, Wieser et al 2003, Fanin et al 2012].

5.

The severe infantile hepatocardiomuscular form and the lethal neonatal form are associated with severe pathogenic variants including p.Lys414ThrfsTer7 [Vladutiu et al 2002b, Thuillier et al 2003].

6.

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

7.

No deletions or duplications involving CPT2 as causative of CPT II deficiency have been reported.

From: Carnitine Palmitoyltransferase II Deficiency

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