Your browser doesn't support javascript.
loading
Nonsense variants of STAG2 result in distinct congenital anomalies.
Aoi, Hiromi; Lei, Ming; Mizuguchi, Takeshi; Nishioka, Nobuko; Goto, Tomohide; Miyama, Sahoko; Suzuki, Toshifumi; Iwama, Kazuhiro; Uchiyama, Yuri; Mitsuhashi, Satomi; Itakura, Atsuo; Takeda, Satoru; Matsumoto, Naomichi.
Afiliação
  • Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Lei M; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nishioka N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Goto T; Department of Obstetrics and Gynecology, Koshigaya Municipal Hospital, Saitama, Japan.
  • Miyama S; Department of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
  • Suzuki T; Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
  • Iwama K; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Itakura A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takeda S; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Matsumoto N; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Hum Genome Var ; 7: 26, 2020.
Article em En | MEDLINE | ID: mdl-33014403
ABSTRACT
Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2020 Tipo de documento: Article