An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
作者： Maria Isabel Alvarez‐Mora , Anne‐Laure Todeschini , Sandrine Caburet , Lilach Peled Perets , Montserrat Mila
DOI: 10.1111/CGE.13803
关键词:
摘要: Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before age 40 years and is a major cause infertility. The study contribution genetic factors to POI has been fueled by use whole exome sequencing (WES). Here, uncover novel causative pathogenic variants risk alleles, WES performed 12 patients with familial (eight unrelated index cases two pairs sisters) six early menopause family history (four one pair sisters). Likely NR5A1 MCM9 genes were identified as well variant INHA that requires further investigation. Moreover, we have more than candidate 3 out 15 cases. Taken together, our results highlight heterogeneity support hypothesis an oligogenic inheritance such conditions, addition monogenic inheritance.
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