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Article

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.

American journal of medical genetics. Part A - 1 Jun 2004

Wicklow Brandy A, Ivanovich Jennifer L, Plews Margot M, Salo Timothy J, Noetzel Michael J, Lueder Gregg T, Cartegni Luca, Kaback Michael M, Sandhoff Konrad, Steiner Robert D, Triggs-Raine Barbara L

Abstract excerpt

We have characterized the molecular basis of beta-hexosaminidase A (HEX A) deficiency in a patient ascertained through an ophthalmologic examination that revealed cherry red spots on his retina. The absence of neurological deficit in this child until 3 3/4 years of age indicated residual HEX A must be present. Three HEXA mutations, 10T > C (S4P) and 972T > A (V324V) on the maternal allele, and 1A > T (M1L) on the...

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Identifiers

PMID: 15108204
DOI: 10.1002/ajmg.a.20633

Genes

HEXA

Variants

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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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.PMID 15108204Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.Semantic proximity Read ↗

Biochemical consequences of mutations causing the GM2 gangliosidoses.Semantic proximity Read ↗

A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.Semantic proximity Read ↗

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.Semantic proximity Read ↗

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.Semantic proximity Read ↗

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Semantic proximity Read ↗

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.Semantic proximity Read ↗

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.Semantic proximity Read ↗

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.Semantic proximity Read ↗

Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.Semantic proximity Read ↗

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.Semantic proximity Read ↗

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