Table 1.

Molecular Genetic Testing Used in AP-4 Associated Hereditary Spastic Paraplegia

Gene 1, 2Proportion of AP-4 Deficiency Attributed to Pathogenic Variants in Gene 3Proportion of Pathogenic Variants 4 Detectable by Method 3
Sequence analysis 5Gene-targeted deletion/duplication analysis 6
AP4B1 ~40% (32/80 probands)100% (25/25 probands)None reported
AP4E1 ~14% (11/80 probands)70% (7/10 probands)30% (3/10 probands)
AP4M1 ~31% (25/80 probands)100% (22/22 probands)None reported
AP4S1 ~15% (12/80 probands)100% (11/11 probands)None reported
1.

Genes are listed in alphabetic order.

2.

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

3.

International Registry and Natural History Study of Adaptor-Protein 4-Related HSP (updated 5-20-18)

4.

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

5.

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.

6.

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.

From: AP-4-Associated Hereditary Spastic Paraplegia

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