期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 90, 期 4, 页码 685-688出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2012.02.010
关键词
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资金
- Rocket Fund
- Sanford Professorship
- Bundesministerium fur Bildung und Forschung network [01GS08166]
- [R01 DK55615]
CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identified PIGL, the de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation, as a strong candidate. Furthermore, cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations.
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