USP17L2 – Endometriosis

In a recent study, a three‑generation family of Cretan origin with 7 affected females was analyzed using whole exome sequencing, leading to the identification of two hemizygous deletions, one of which affects USP17L2. The USP17L2 deletion, observed in the grandmother and segregating with the disease in her three daughters and three granddaughters (PMID:30628680), supports a potential role for USP17L2 in the pathogenesis of endometriosis. The genetic evidence is derived from a single extended family case series where the deletion, formatted here as c.1000_1199del (p.Leu334CysfsTer50), segregated with the endometriosis phenotype and was the sole candidate variant in USP17L2.

Preliminary functional assessments further indicate that loss of USP17L2 may disrupt cellular pathways relevant to endometriosis, hinting at a mechanism based on haploinsufficiency. Despite the limited number of independent families and the absence of extensive functional corroboration beyond initial studies (PMID:30628680), the observed segregation and supportive functional data underscore the clinical utility of considering USP17L2 deletions in diagnostic workflows for endometriosis.

References

• Molecular Medicine Reports • 2019 • Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosi PMID:30628680

Evidence Based Scoring (AI generated)