Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
Open Access
- 27 September 2018
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 5 (1) , 27
Abstract
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome.Keywords
This publication has 20 references indexed in Scilit:
- Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activityNature, 2018
- Clinical significance of high c-MYC and low MYCBP2 expression and their association with Ikaros dysfunction in adult acute lymphoblastic leukemiaOncotarget, 2015
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVARNature Protocols, 2015
- The Molecular Basis for the Substrate Specificity of Protein Tyrosine Phosphatase PTPN3Structure, 2015
- Molecular Characterization of an Intact p53 Pathway Subtype in High-Grade Serous Ovarian CancerPLOS ONE, 2014
- Activating Mutations in PTPN3 Promote Cholangiocarcinoma Cell Proliferation and Migration and Are Associated With Tumor Recurrence in PatientsGastroenterology, 2014
- Using VarScan 2 for Germline Variant Calling and Somatic Mutation DetectionCurrent Protocols in Bioinformatics, 2013
- From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices PipelineCurrent Protocols in Bioinformatics, 2013
- Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndromeFertility and Sterility, 2011
- Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsOrphanet Journal of Rare Diseases, 2009