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Article

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

Orphanet journal of rare diseases - 12 Nov 2024

Mu Dan, Yang Yanting, Liu Yao, Shen Ying, Liu Hongqian, Wang Jing

Abstract excerpt

BACKGROUND: GM3 synthase deficiency (GM3SD) is an autosomal recessive disorder resulting from mutations in the ST3GAL5 gene. It is characterized by intellectual disability, microcephaly, psychomotor and developmental delay, hearing and visual impairments, and changes in skin pigmentation. This study aims to broaden the genetic mutation spectrum of GM3SD through the report of a de novo mutation and a comprehensive...

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Identifiers

PMID: 39533347
DOI: 10.1186/s13023-024-03369-6
PMCID: PMC11555936

Genes

ST3GAL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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