Journal
CLINICAL GENETICS
Volume 99, Issue 4, Pages 583-587Publisher
WILEY
DOI: 10.1111/cge.13921
Keywords
EFS; infertility; mutation; ZP1
Categories
Funding
- National Nature Science Foundation of China [81971448, 81771649, 81771574]
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Empty follicle syndrome (EFS) is a serious and complex reproductive complication for infertile women, with increasing evidence highlighting the genetic basis of EFS occurrence. Novel and reported mutations in the ZP1 gene were identified in individuals with EFS, expanding the mutational spectrum and providing insights into the biological functions of ZP1 and its role in assessing EFS disease.
Empty follicle syndrome (EFS) is a serious and complex reproductive complication for infertile women suffering from the recurrent failure of oocyte retrieval in an in vitro fertilization procedure, and its pathogenesis remains obscure. Increasing evidence highlights the genetic basis of EFS occurrence. In this study, we identified two novel missense mutations (c.1127G > A, p.C376Y and c.325C > T, p.R109C), two novel frameshift mutations (c.800_801delAG, p.E267Gfs*80 and c.1815_1825delGGTCCTTTTGC, p.V606Afs*42), one novel nonsense mutation (c.199G > T, p.E67Ter), and three reported mutations (c.769C > T, p.Q257Ter; c.1430 + 1G > T, p.C478Ter and c.1169_1176delTTTTCCCA, p.I390Tfs*16) in five unrelated probands, showing similar EFS manifestations, which expands the mutational spectrum of individuals with autosomal recessive ZP1. Current research will provide a better understanding of the biological functions of ZP1, and some insight into the determination of ZP1 variation as an additional rule for assessing the EFS disease.
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