Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Kuster-Hauser Syndrome.

ABSTRACT: To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin or affected tissue could cause the phenotype, we identified a mosaic variant in ACTR3B with high allele frequency in the affected tissue, low allele frequency in the blood of the affected twin, and almost absent in blood of the unaffected twin. Focusing on MRKH candidate genes, we detected a pathogenic variant in GREB1L in one twin pair and their unaffected mother showing a reduced phenotypic penetrance. Furthermore, two variants of unknown clinical significance in PAX8 and WNT9B were identified. In addition, we conducte

SUBMITTER: Buchert R 

PROVIDER: S-EPMC9573672 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature