E-Mail karger@karger.com Original Article Sex Dev 2019;13:26–34 DOI: 10.1159/000494896 Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches Brendan Backhouse a Chloe Hanna b, c Gorjana Robevska a Jocelyn van den Bergen a Emanuele Pelosi e Cas Simons b Peter Koopman e A. Zulfa Juniarto f Sonia Grover a–c Sultana Faradz f Andrew Sinclair a, b, d Katie Ayers a, b Tiong Y. Tan a–d a Department of Paediatrics, University of Melbourne, b Murdoch Children’s Research Institute, c Royal Children’s Hospital, d Victorian Clinical Genetics Services, Melbourne, VIC, and e Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia; f Center for Biomedical Research, Faculty of Medicine, Diponegoro University (FMDU), Semarang, Indonesia contributing variants. Microarray analysis identified a 0.6-Mb deletion in the previously implicated 16p11.2 region in a pa- tient with MRKH type 2. WES revealed 16 rare nonsynony- mous variants in MRKH candidate genes across the cohort. These included variants in several genes, such as LRP10 and DOCK4, associated with disorders with müllerian anomalies. Further functional studies of these variants will help to delin- eate their biological significance and expand the genotypic spectrum of MRKH. © 2018 S. Karger AG, Basel Mayer-Rokitansky-Küster-Hauser (MRKH) syn- drome (OMIM 277000) is a congenital disorder of sex development (DSD). It affects the female reproductive tract of approximately 1 in 4,500 females and is charac- Keywords Genotype · MURCS · Phenotype · Whole exome sequencing Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a dis- order of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, in- cluding the uterus, cervix, and upper vagina. It can occur in isolation (type 1) or in conjunction with various anomalies (type 2), with a subset of these comprising müllerian, renal, and cervicothoracic abnormalities (MURCS) association. The genetic causes of MRKH have been investigated previously yielding limited results, with massive parallel sequencing be- coming increasingly utilized. We sought to identify genetic contributions to MRKH using a combination of microarray and whole exome sequencing (WES) on a cohort of 8 unre- lated women with MRKH and MURCS. WES data were ana- lysed using a candidate gene approach to identify potential Accepted: July 18, 2018 Published online: December 1, 2018 Tiong Yang Tan Murdoch Children’s Research Institute Royal Children’s Hospital Flemington Road, Parkville, Melbourne, VIC 3052 (Australia) E-Mail tiong.tan  @  vcgs.org.au © 2018 S. Karger AG, Basel www.karger.com/sxd K.A. and T.Y.T contributed equally to this work.