A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility

ConclusionsHere, we report for the first time two homozygous likely pathogenic and pathogenicTERB1 variants, c.626G>A, p.Trp209* and c.1703C>G, p.Ser568*, respectively, in two unrelated women with primary infertility.TERB1 is known to play an essential role in homologous chromosome movement, synapsis, and recombination during the meiotic prophase I and has an established role in male infertility in humans. Our data addTERB1 to the shortlist of Meiosis I genes associated with human infertility in both sexes.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research