Whole exome sequencing of two affected family members subsequently identified a missense variant in the leucine zipper, putative tumor suppressor-1 gene (LZTS1) in this region (p.His211Gln).
All the affected, and none of the unaffected, individuals in this family harbored the same variant in LZTS1. However, the authors did not find the 8p22-8p21.1 locus linkage in four other hEDS families.
Gene symbol Transcript Position BCAR3 AGGTCAGAGGTCA 93663502-93663514 LZTS1
AGGTCAAAGGTCA 20248971-20248983 SLC5A1 AGGTCACAGGTCA 32033858-32033870 TCF20 AGGTCATAGGTCA 42271609-42271621 WT1 AGGTCAGAGGTCA 32470961-32470973 32470822-32470834 ZNF621 AGGTCAGAGGTCA 41052623-41052635 THRB (TR[beta]2) AGGTCACAGGTCA 24169753-24169765 Gene symbol NCBI reference sequence BCAR3 NC_000001.11 LZTS1
NC_000008.11 SLC5A1 NC_000022.11 TCF20 NC_000022.11 WT1 NC_000011.10 ZNF621 NC_000003.12 THRB (TR[beta]2) NC_000003.12 BCAR3: breast cancer antiestrogen resistance 3; LZTS1
: leucine zipper putative tumor suppressor 1; SLC5A: solute carrier family 5 member 1; TCF20: transcription factor 20; WT1: Wilms tumor 1; ZNF621: zinc finger protein 621; THRB: thyroid hormone receptor beta.
Wang, "miR-214 promotes the proliferation and invasion of osteosarcoma cells through direct suppression of LZTS1
," Biochemical and Biophysical Research Communications, vol.
Promoter hypermethylation of the LZTS1 gene (located at 8p12) is frequently identified in IMPC, which leads to down-regulation of LZTS1 expression.
Loss of leucine zipper putative tumor suppressor 1 (LZTS1) expression contributes to lymph node metastasis of breast invasive micropapillary carcinoma.
Recent work has indicated that some cell types may be resistant to paclitaxel due to downregulation of LZTS1
Chang et al., "MicroRNA-135b promotes lung cancer metastasis by regulating multiple targets in the Hippo pathway and LZTS1
," Nature Communications, vol.
No significant correlation  with systemic metastasis LZTS1
+ Simoes et al.
DNA Methylation and Patient Outcome.--DNA methylation status of individual genes, such as those encoding a transcriptional repressor (HIC1), a proapoptotic protein (PYCARD), a tumor suppressor (LZTS1
), and a transporter (SLC6A20), has been associated with either a good or poor prognosis.