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Background  To dissect the genetic alteration in two sisters with premature ovarian insufficiency (POI) from a consanguineous family.    Methods  Whole-exome sequencing technology was used in the POI proband, bioinformatics analysis was carried out to identify the potential genetic cause in this pedigree. Sanger sequencing analyses were performed to validate the segregation of the variant within the pedigree. In silico analysis was also used to predict the effect and pathogenicity of the variant.    Results  Whole-exome sequencing analysis identified novel and rare homozygous mutation associated with POI, namely mutation in  FIGLA  (c.2 T > C, start codon shift). This homozygous mutation was also harbored by the proband’s sister with POI and was segregated within the consanguineous pedigree. The mutation in the start codon of the  FIGLA  gene alters the open reading frame, leading to a  FIGLA  knock-out like phenotype.    Conclusions  Biallelic mutations in  FIGLA  may be the cause of POI. This study will aid researchers and clinicians in genetic counseling of POI and provides new insights into understanding the mode of genetic inheritance of  FIGLA  mutations in POI pathology.

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency