Table 1.

Molecular Genetic Testing Used in Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)

Gene 1, 2Proportion of PLOSL Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted  5
TREM2 70%>90% 6Unknown 7
TYROBP 30% 8>90% in persons of all other ethnicities100% in persons of Finnish ancestry 9
1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on variants detected in these genes.

4.

Sequence analysis detects variants that are benign, , of , , or pathogenic. Variants may include small intragenic deletions/insertions and , , and variants; typically, or whole- deletions/duplications are not detected. For issues to consider in interpretation of results, click here.

5.

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

6.

Most affected individuals tested to date are for their [, , ].

7.

No data on detection rate of -targeted are available.

8.

Pathogenic variants in TYROBP have been detected in 100% of affected persons in Finland and commonly in Japan. Elsewhere TREM2 variants appear to be more common [, , ].

9.

All Finnish individuals with PLOSL are for of exons 1-4 (c.-2897_277-1227del5265). Deletions of exons 1-4 have also been found in affected persons in other countries as well [, ].

From: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

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