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

2018; Springer Nature; Volume: 5; Issue: 1 Linguagem: Inglês

10.1038/s41439-018-0028-4

2054-345X

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

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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.