Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome

Kazumi Takahashi; Takahide Hayano; Ryota Sugimoto; Hirofumi Kashiwagi; Mari Shinoda; Yoshihiro Nishijima; Takahiro Suzuki; Shingo Suzuki; Yuko Ohnuki; Akane Kondo; Takashi Shiina; Hirofumi Nakaoka; Ituro Inoue; Shun-Ichiro Izumi

doi:10.1038/s41439-018-0028-4

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome

Hum Genome Var. 2018 Sep 27:5:27. doi: 10.1038/s41439-018-0028-4. eCollection 2018.

Authors

Kazumi Takahashi^{1

2}, Takahide Hayano³, Ryota Sugimoto⁴, Hirofumi Kashiwagi¹, Mari Shinoda^{1

2}, Yoshihiro Nishijima¹, Takahiro Suzuki¹, Shingo Suzuki⁵, Yuko Ohnuki^{2

5}, Akane Kondo^{1

2

6}, Takashi Shiina⁵, Hirofumi Nakaoka⁴, Ituro Inoue⁴, Shun-Ichiro Izumi^{1

2}

Affiliations

¹ 1Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa Japan.
² 2Department of Clinical Genetics, Tokai University Hospital, Isehara, Kanagawa Japan.
³ 3Department of Systems Bioinformatics, Yamaguchi University Graduate School of Medicine, Ube, Japan.
⁴ 4Division of Human Genetics, National Institute of Genetics, Mishima, Shizuoka Japan.
⁵ 5Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Kanagawa Japan.
⁶ 6Perinatal Medical Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Zentsuji, Kagawa Japan.

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.

Publication types

Case Reports