Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest

In this study, nine unrelated primary infertile females presenting with oocyte GV arrest were recruited during the treatment of early rescue ICSI or ICSI from January 2013 to December 2016.PARTICIPANTS/MATERIALS, SETTING, METHODSGenomic DNA was isolated from blood samples obtained from all nine affected individuals and all of their available family members. All the coding regions ofPATL2 were sequenced by Sanger sequencing. The pathogenicity of the identified variants and their possible effects on the protein were evaluatedin silico.MAIN RESULTS AND THE ROLE OF CHANCEFive novel point mutations and one recurrent splicing mutation inPATL2 were identified in four of nine (44.4%) unrelated patients. We found a consanguineous family with a homozygous missense mutation in two affected sisters, and their fertile brother. There were no clear phenotypic differences in oocytes between the patient with the homozygous missense mutation, patients with nonsense mutations and undiagnosed patients.LARGE SCALE DATAn/a.LIMITATIONS, REASONS FOR CAUTIONThe function of PATL2 remains largely unknown. Both the exact pathogenic mechanism(s) of mutatedPATL2 causing human oocyte maturation arrest and the strategies to overcome this condition should be further investigated in the future.WIDER IMPLICATIONS OF THE FINDINGSAccording to our data, mutations inPATL2 account for 44.4% of the individuals with oocyte GV arrest. Our study further confirms that PATL2 is required for human oocyte maturation and fe...
Source: Human Reproduction - Category: Reproduction Medicine Source Type: research