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Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

ABSTRACT: Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were 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 variable GPC3 alterations, with a possible mechanism in female patients.

SUBMITTER: Shimojima K

PROVIDER: S-EPMC5061924 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

Shimojima Keiko K Ondo Yumiko Y Nishi Eriko E Mizuno Seiji S Ito Miharu M Ioi Aya A Shimizu Mariko M Sato Maho M Inoue Masami M Okamoto Nobuhiko N Yamamoto Toshiyuki T

Human genome variation 20161013

Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were 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 variable GPC3 altera ...[more]

PMID: 27790374

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