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Article

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

Clinical genetics - 1 Jul 2025

Zhao Zi-Xi, Zhou Jing-Lin, Wang Qi, Peng Songmin, Peng Yao, Wang Yu-Rong, Hu Liang, Aiyitahong Rejima, Peng Lin, Gu Feng, Lu Guang-Xiu, Lin Ge, Chen Song, Tan Yue-Qiu, Du Juan, He Wen-Bin

Abstract excerpt

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare recessive genetic conditions characterised by developmental delays and an early onset epilepsy caused by disruptions in the glycosylphosphatidylinositol-anchored biosynthetic pathway. In this study, we identified eight variants in phosphatidyl inositol glycan (PIG) genes from four IGDs families through whole-exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39924787
DOI: 10.1111/cge.14716

Genes

PIGN
PIGW
PIGA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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