P-716 Genetic mutations in women with recurrent assisted reproductive technology failure

Abstract Study question Are there genetic mutations which may lead to recurrent failures of assisted reproductive technology? Summary answer In this study, some genes were found be candidates for causing repeated ART failures. What is known already Although aging one the greatest hindrances successful pregnancy, many patients remain infertile, enduring failures, and approximately 20% infertility idiopathic. At present, mutation 8 genes, PADI6, NLRP2, TLE6, NLRP5, BTG4, KHDC3L, REC114 OOEP has been reported cause early embryonic arrest, while PATL2 with GV stage arrest; TUBB8 TRIP13 failure polar body extrusion; PANX1 oocyte death; ZP1, ZP2, ZP3 empty follicle syndrome; WEE2, TLE6 CDC20 fertilization have found. design, size, duration Between January October 2021, at Hanabusa Women’s Clinic, 25 infertile women, who experienced IVF / ICSI more than 5 times, blastocyst formation rates less 10%, recruited, after informed consent was obtained. 10 staff members Clinic conceived delivered naturally compared as normal controls. Participants/materials, setting, methods Genomic DNA extracted from whole blood genomic samples subjected exome sequencing. High impact variants allele frequencies ≦0.20 in 1000 Genome EAS, not control subjects, selected. Data Human Genetic Variation Database (HGVD) used Hardy-Weinberg equation (HWE) evaluate possible caused by mutations. Main results role chance homozygous detected 57 among study subjects but subjects. Among these significant differences between 8.3KJPN ADAM33 (p = 0.009), CEP89 0.012), CRIPAK < 0.001), LGALS9B PDZRN3 RAET1E 0.007) SPATA31A3 0.045). The HWE each gene calculated based on data HGVD. mentioned above, significantly lower HGVD 0.033), MICA OR2T29 0.003), OR52J3 0.0497), RABL2A RNF17 0.0499), SPATA31C1 0.030) WWTR1 0.001). Having identified piRNA pathway RNF17, had reduced HWE, localization primordial examined. Immunofluorescent staining showed that sporadically localized cytoplasm follicles. Limitations, reasons caution sample size relatively small, precise information such age, gender database did match patients, thus, interpretation limited further research required confirm our findings. Wider implications findings abovementioned Hippo signal WWER1, most likely causes provide potential diagnostic markers helping us understand basis female infertility. Trial registration number Not applicable