期刊
HUMAN MUTATION
卷 32, 期 12, 页码 1376-1380出版社
WILEY
DOI: 10.1002/humu.21606
关键词
SOX2; pituitary; tumors; ss-catenin
资金
- Wellcome Trust [084361, 078432, 086545]
- ESPE
- Ulverscroft Foundation
- Great Ormond Street Children's Charity
- Great Ormond Street Hospital Childrens Charity [V1229] Funding Source: researchfish
SOX2 is an early developmental transcription factor and marker of stem cells that has recently been implicated in the development of the pituitary gland. Heterozygous SOX2 mutations have been described in patients with hypopituitarism and severe ocular abnormalities. In the majority of published cases, the pituitary gland is either small or normal in size. Here, we report two unrelated patients with SOX2 haploinsufficiency (a heterozygous gene deletion and a novel c.143TC > AA/p.F48X mutation) who developed nonprogressive pituitary tumors of early onset, suggesting a congenital etiology. The truncating mutation resulted in significant loss of function and impaired nuclear localization of the mutant protein, in addition to a failure to repress beta-catenin transcriptional activity in vitro. This is the first indication that SOX2 haploinsufficiency is implicated in the generation of pituitary tumors with distinct clinical characteristics, possibly mediated via its effects on the Wnt signaling pathway. 32:13761380, 2011. (C) 2011 Wiley Periodicals, Inc.
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