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Article

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Journal of medical genetics - 1 Aug 2013

Kvarnung Malin, Nilsson Daniel, Lindstrand Anna, Korenke G Christoph, Chiang Samuel C C, Blennow Elisabeth, Bergmann Markus, Stödberg Tommy, Mäkitie Outi, Anderlid Britt-Marie, Bryceson Yenan T, Nordenskjöld Magnus, Nordgren Ann

Abstract excerpt

PURPOSE: To delineate the molecular basis for a novel autosomal recessive syndrome, characterised by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings. METHODS: We examined four patients from a consanguineous kindred with a strikingly similar phenotype, by using whole exome sequencing (WES). Functional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23636107
DOI: 10.1136/jmedgenet-2013-101654

Genes

GPI
PIGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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