Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudal portion of the Müllerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutations were identified, which were absent in controls. One was a missense mutation in exon 1, and the other was located in the 3′-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudal portion of the Müllerian duct—the anlagen of the oviduct, uterus, cervix and upper portion of the vagina. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon–intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. We identified two novel heterozygous mutations, which were absent in controls. One was a missense mutation in exon 1, and the other was located in the 3-UTR. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.