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Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women
- Source :
- Clinical geneticsREFERENCES. 99(4)
- Publication Year :
- 2020
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Proband
Infertility
Adult
Nonsense mutation
Mutation, Missense
Oocyte Retrieval
Disease
030105 genetics & heredity
Biology
medicine.disease_cause
Zona Pellucida Glycoproteins
Frameshift mutation
Pathogenesis
03 medical and health sciences
Ovarian Follicle
Genetics
medicine
Missense mutation
Humans
Amino Acid Sequence
Frameshift Mutation
Genetics (clinical)
Mutation
Sequence Homology, Amino Acid
medicine.disease
Hormones
030104 developmental biology
Codon, Nonsense
Female
Infertility, Female
Sequence Alignment
Subjects
Details
- ISSN :
- 13990004
- Volume :
- 99
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Clinical geneticsREFERENCES
- Accession number :
- edsair.doi.dedup.....fa3c3101237b7a1edf822b61aed1aabf