Endometriosis is a common gynecological disease affecting up to 10% of women at reproductive age. Prior combined studies implied that MYH8 mutations might exist in endometriosis. Here, 152 Han Chinese samples with ovarian endometriosis were analyzed for the presence of MYH8 mutations. Two heterozygous missense mutations in the MYH8 gene, c.1441A > C (p.I481L) and c.4057G > A (p.E1353K), were identified in our samples. These mutations were neither found in public databases nor detected in our 485 Han Chinese control women without endometriosis. The p.I481L-mutated sample belonged to 34-year-old, who had slightly elevated serum CA 125 (42.09 U/mL); while the sample with p.E1353K mutation belonged to 25 years old, who had a markedly increased serum CA125 (89.86 U/mL). The evolutionary conservation analysis results suggested that these MYH8 mutations caused highly conserved amino acid substitutions among vertebrate species. Both the mutations were predicted to be 'disease causing' by MutationTaster and SIFT programs. In addition, no association was observed between MYH8 mutations and the available clinical data. In summary, the present study identified two novel potential pathogenic mutations in the MYH8 gene in samples with ovarian endometriosis for the first time, implying that MYH8 mutations might play a positive role in the pathogenesis of endometriosis.
Keywords: Han Chinese; MYH8; mutations; ovarian endometriosis.