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Article

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

Journal of ovarian research - 18 Jun 2018

Chen Beili, Li Lin, Wang Jing, Li Tengyan, Pan Hong, Liu Beihong, Zhou Yiran, Cao Yunxia, Wang Binbin

Abstract excerpt

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...

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Identifiers

PMID: 29914564
DOI: 10.1186/s13048-018-0413-0
PMCID: PMC6006558

Genes

FIGLA

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