Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
2012; Elsevier BV; Volume: 90; Issue: 4 Linguagem: Inglês
10.1016/j.ajhg.2012.02.010
ISSN1537-6605
AutoresBobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zunich, Madhuri Hegde, Hudson H. Freeze,
Tópico(s)Lysosomal Storage Disorders Research
ResumoCHIME 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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