Loss of zona pellucida in oocytes due to compound heterozygous variants of ZP1 gene / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a patient with primary infertility due to loss of zona pellucida.@*METHODS@#The proband and his parents were subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatics analysis.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ZP1 gene in exon 5 c.874C>T(Gln292*) and exon 7 c.1127_1128delCT (p.Ala376GlyTer386), which were respectively inherited from her mother and father.@*CONCLUSION@#The compound heterozygous variant of ZP1 gene probably underlie the loss of zona pellucida in oocyte disease in the proband.