Table 6.

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
TREM2 NM_018965​.3 c.40+4_40+6delGGA
(c.40+3delAGG 1)
--CNS manifestations typical of PLOSL but w/o diagnosed osseous manifestations [, ]
NM_018965​.3
NP_061838​.1
c.113A>Gp.Tyr38Cys
c.197C>Tp.Thr66Met
c.233G>Ap.Trp78TerReported in 2 Swedish families []
c.377T>Gp.Val126GlyReported in 2 persons of Sri Lankan background []
c.97C>Tp.Gln33TerReported to cause PLOSL w/typical bone pathology but also frontotemporal dementia-like syndrome w/o bone pathology on radiographs
NM_018965​.3 c.482+2T>C--Reported in Japanese persons w/PLOSL [, ]
TYROBP NM_003332​.3 c.-2897_277-1227del5265 2
(5265-bp del; of exons 1-4)
--All Finnish persons w/PLOSL are for this , also found in Swedish & Norwegian families [, ]
NM_003332​.3
NP_003323​.1
c.2T>Cp.Met1ThrReported in 2 Japanese families [, ]
c.141delGp.Met48TrpfsTer6Reported in a number of Japanese families [, , , ]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions.

2.

Because the 1-4 is an Alu-mediated event, the breakpoint is not known precisely.

From: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

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