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Article

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

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

Lee Jin Sook, Yoo Yongjin, Lim Byung Chan, Kim Ki Joong, Song Junghan, Choi Murim, Chae Jong-Hee

Abstract excerpt

There have been a few reports of GM3 synthase deficiency since the disease of the ganglioside biosynthetic pathway was first reported in 2004. It is characterized by infantile-onset epilepsy with severe intellectual disability, blindness, cutaneous dyspigmentation, and choreoathetosis. Here we report the cases of two Korean female siblings with ST3GAL5 variants, who presented with a Rett-like phenotype. They had...

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Source

Identifiers

PMID: 27232954
DOI: 10.1002/ajmg.a.37773

Genes

CDKL5
FOXG1
MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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