Detection of de novo genetic variants in Mayer-Rokitansky-K üster-Hauser syndrome by whole genome sequencing.

Conclusion: We identified five de novo mutations in BAZ2B, KLHL18, PIK3CD, SLC4A10 and TNK2 by performing WGS, the functional involvement of all deleterious mutations in MRKH candidate genes of the trios warrant further study. WGS may complement conventional array to capture the complete landscape of the genome in MRKH.
PMID: 31517310 [PubMed]

Source: Reproductive Biology - September 15, 2019 Category: Reproduction Medicine Authors: Pan HX, Luo GN, Wan SQ, Qin CL, Tang J, Zhang M, Du M, Xu KK, Shi JQ Tags: Eur J Obstet Gynecol Reprod Biol X Source Type: research