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

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...

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Detalles Bibliográficos
Autores principales: Takahashi, Kazumi, Hayano, Takahide, Sugimoto, Ryota, Kashiwagi, Hirofumi, Shinoda, Mari, Nishijima, Yoshihiro, Suzuki, Takahiro, Suzuki, Shingo, Ohnuki, Yuko, Kondo, Akane, Shiina, Takashi, Nakaoka, Hirofumi, Inoue, Ituro, Izumi, Shun-ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160444/
https://www.ncbi.nlm.nih.gov/pubmed/30302266
http://dx.doi.org/10.1038/s41439-018-0028-4
Descripción
Sumario: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.

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