title: Loss-of-function mutations and global rearrangements inGPC3in patients with Simpson-Golabi-Behmel syndrome.
abstract: Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations inGPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involvingGPC3were identified. A female sibling of the patient, who presented with a cleft palate and hepatoblastoma, carries the same chromosomal rearrangement and a paradoxical pattern of X-chromosome inactivation. These findings support variableGPC3alterations, with a possible mechanism in female patients.
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors: Keiko
authors: K
authors: Shimojima
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors: Yumiko
authors: Y
authors: Ondo
authors: Department of Pediatrics, Central Hospital, Aichi Human Service Center , Kasugai, Japan.
authors: Eriko
authors: E
authors: Nishi
authors: Department of Pediatrics, Central Hospital, Aichi Human Service Center , Kasugai, Japan.
authors: Seiji
authors: S
authors: Mizuno
authors: Department of Pediatrics, Nagoya University Graduate School of Medicine , Nagoya, Japan.
authors: Miharu
authors: M
authors: Ito
authors: Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors: Aya
authors: A
authors: Ioi
authors: Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors: Mariko
authors: M
authors: Shimizu
authors: Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors: Maho
authors: M
authors: Sato
authors: Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors: Masami
authors: M
authors: Inoue
authors: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Izumi, Japan.
authors: Nobuhiko
authors: N
authors: Okamoto
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors: Toshiyuki
authors: 0000-0002-9484-3505
authors: T
authors: Yamamoto