Homo sapiens Exome. Homo sapiens

Ovarian development and maintenance are poorly understood, but diseases affecting them can offer insights into their underlying mechanisms. XX-female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by underdeveloped, dysfunctional ovaries with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. We studied an extended consanguineous family in which females exhibited XX-GD. Using homozygosity mapping and whole exome sequencing, we identified a novel recessive mutation that segregated with the XX-GD phenotype and is not present in databases nor in 150 ethnically-matched controls. This study identified a novel genetic basis for XX-GD.