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Article

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

American journal of medical genetics. Part A - 1 Feb 2016

Fauth Christine, Steindl Katharina, Toutain Annick, Farrell Sandra, Witsch-Baumgartner Martina, Karall Daniela, Joset Pascal, Böhm Sebastian, Baumer Alessandra, Maier Oliver, Zschocke Johannes, Weksberg Rosanna, Marshall Christian R, Rauch Anita

Abstract excerpt

Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital anomalies, and early death ("MCAHS2"), (ii) neurodegenerative encephalopathy with systemic iron overload...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26545172
DOI: 10.1002/ajmg.a.37452

Genes

PIGA

Variants

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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