Ontology highlight
ABSTRACT:
SUBMITTER: Yang L
PROVIDER: S-EPMC5951959 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Yang Li L Peng Jing J Yin Xiao-Meng XM Pang Nan N Chen Chen C Wu Teng-Hui TH Zou Xiao-Min XM Yin Fei F
Frontiers in genetics 20180508
<i>PIGT</i> encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous <i>PIGT</i> variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identified by panel sequencing. Pathogenicity of the variant was confirmed by flow cytometry. The expression of CD16 and CD24 of this proband reduced to 16.92 and 22.16% compare with normal control re ...[more]