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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC6772114/
  3. link.springer.com link.springer.com
    Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
    2
    1. ClingenBaseline 21 Oct 2026
      SD9 F I 25.2 (L) 90 c.850C>T (p.R284X) c.850C>T (p.R284X)

      Case: Zampieri SD9, Female

      DiseaseAssertion: Sandhoff Disease

      FamilyInfo: patient's genotype was confirmed in parents

      CasePresentingHPOs: HP:0000007, HP:0033978

      CaseHPOFreeText: neurological symptoms (unspecified)

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Patients presented with neurological symptoms and diagnosis was confirmed by the demonstration of reduced Hex A and Hex B activity in peripheral white blood cells or cultured fibroblasts.

      GenotypingMethod: PCR

      PreviouslyPublished: n/a

      SupplementalData: n/a

      Variant: c.850C>T (p.R284X) same on both alleles

      CAID: CA116495

      gnomAD: MAF: 0.0002286 South Asian, gnomAD variant ID: 5-74009409-C-T

      VariantEvidence: PMID:8162015 previously reported this variant to be associated with the infantile form of SD. A fibroblast line from this patient with the infantile form of the disease was investigated for mutations by single strand conformation polymorphism analysis and direct sequencing of PCR products. A nonsense mutation was found which generated a stop codon at codon 284. The study investigated the steady-state level of mRNA produced by cells containing stop codons using a competitive polymerase chain reaction technique and found that at codon 284, the mRNA levels were 0.8%, as percent of normal per single gene dose.

      Individual CaseInfo inferred_gene_hgnc:4879 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      SD9 F I 25.2 (L) 90 c.850C>T (p.R284X) c.850C>T (p.R284X)

      Case: Zampieri SD9, Female

      DiseaseAssertion: Sandhoff Disease

      FamilyInfo: patient's genotype was confirmed in parents

      CasePresentingHPOs: HP:0000007, HP:0033978

      CaseHPOFreeText: neurological symptoms (unspecified)

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Patients presented with neurological symptoms and diagnosis was confirmed by the demonstration of reduced Hex A and Hex B activity in peripheral white blood cells or cultured fibroblasts.

      GenotypingMethod: PCR

      PreviouslyPublished: n/a

      SupplementalData: n/a

      Variant: c.850C>T (p.R284X) same on both alleles

      CAID: CA116495

      gnomAD: MAF: 0.0002286 South Asian, gnomAD variant ID: 5-74009409-C-T

      VariantEvidence: PMID:8162015 previously reported this variant to be associated with the infantile form of SD. A fibroblast line from this patient with the infantile form of the disease was investigated for mutations by single strand conformation polymorphism analysis and direct sequencing of PCR products. A nonsense mutation was found which generated a stop codon at codon 284. The study investigated the steady-state level of mRNA produced by cells containing stop codons using a competitive polymerase chain reaction technique and found that at codon 284, the mRNA levels were 0.8%, as percent of normal per single gene dose.

      Individual CaseInfo inferred_gene_hgnc:4879 inferred_gene_source:CAID UNC Biocuration Core
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    link.springer.com/article/10.1007/s10048-008-0145-1/tables/2