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Article

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Human mutation - 1 Jul 2017

Tanigawa Junpei, Mimatsu Haruka, Mizuno Seiji, Okamoto Nobuhiko, Fukushi Daisuke, Tominaga Koji, Kidokoro Hiroyuki, Muramatsu Yukako, Nishi Eriko, Nakamura Shota, Motooka Daisuke, Nomura Noriko, Hayasaka Kiyoshi, Niihori Tetsuya, Aoki Yoko, Nabatame Shin, Hayakawa Masahiro, Natsume Jun, Ozono Keiichi, Kinoshita Taroh, Wakamatsu Nobuaki, Murakami Yoshiko

Abstract excerpt

Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins; however, IGDs constitute a rare group of diseases, and correlations between the...

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Source

Identifiers

PMID: 28337824
DOI: 10.1002/humu.23219

Genes

PIGO
GPI
PIGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.PMID 28337824Read ↗

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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

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