Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date

doi:10.1002/ajmg.a.40447

American J of Med Genetics Pt A

2019

DOI: 10.1002/ajmg.a.40447

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Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date

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2024

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

Mu,

Yang,

Liu

et al. 2024

Orphanet J Rare Dis

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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 summary of GM3SD phenotype to aid in genetic counseling and prenatal diagnosis. Results Compound heterozygous variants in ST3GAL5 (NM_003896.4: c.1000delC, p.Arg334Glufs*15 and c.207-1G > T, p.Cys70Glufs*81) were identified via trio-whole exome sequencing (trio-WES) and confirmed pathogenic through functional experiments. Notably, c.207-1G > T was a newly discovered variant. Additionally, previously reported GM3SD mutations were classified into R288X and non-R288X, revealing that R288X mutations were more likely to manifest developmental, emotional abnormalities, and severe feeding difficulties. Conclusions This study reveals a novel mutation in ST3GAL5 and provides a comprehensive overview of GM3SD phenotype, aiding in the diagnosis and genetic counseling of GM3SD in clinical practice.

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

Mu,

Yang,

Liu

et al. 2024

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

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Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date

Cited by 1 publication

References 2 publications

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

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

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