publication . Article . Other literature type . 2018

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

Li Yang; Jing Peng; Xiao-Meng Yin; Nan Pang; Chen Chen; Teng-Hui Wu; Xiao-Min Zou; Fei Yin; Fei Yin;
Open Access
  • Published: 08 May 2018 Journal: Frontiers in Genetics, volume 9 (eissn: 1664-8021, Copyright policy)
  • Publisher: Frontiers Media SA
Abstract
PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT 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 respectively while which of his parents and sister were normal. This mutation raised the mRNA level on the peripheral blood mono nuclear cells of this patient. This study expanded the...
Subjects
free text keywords: Genetics(clinical), Molecular Medicine, Genetics, Pathogenicity, Protein subunit, Global developmental delay, Proband, Glycosylphosphatidylinositol, chemistry.chemical_compound, chemistry, Biology, Hypotonia, medicine.symptom, medicine, Epilepsy, medicine.disease, Mutation, medicine.disease_cause, GPI-anchored proteins, MCAHS3, multi-malformations, QH426-470, Case Report, PIGT
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publication . Article . Other literature type . 2018

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

Li Yang; Jing Peng; Xiao-Meng Yin; Nan Pang; Chen Chen; Teng-Hui Wu; Xiao-Min Zou; Fei Yin; Fei Yin;