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Table 3 Summary of five patients with compound heterozygosity in B3GAT3

From: Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review

Nationality/race/ethnicity Consanguineous family Age Sex Variant Classification Exon Domain
Caucasian Yes 4y M c.1A>G, p.M1? LP 1 Cytoplasmic domain
     c.671T>A, p.L224Q VUS 4 Acceptor substrate binding subdomain
Italian No 13y F c.481C>T, p.R161W LP 3 Donor substrate binding subdomain
     c.889C>T, p.R297W LP 4 Acceptor substrate binding subdomain
Australian No Stillborn at 16 w M c.505C>T, p.R169W D* 3 Donor substrate binding subdomain
     c.673C>T, p.R225* LP 4 Acceptor substrate binding subdomain
   Deceased at 9m F c.505C>T, p.R169W D* 3 Donor substrate binding subdomain
     c.673C>T, p.R225* LP 4 Acceptor substrate binding subdomain
Chinese No 2m M c.752T>C, p.V251A VUS 4 Acceptor substrate binding subdomain
     c.47C>A, p.S16* LP 1 Transmembrane domain
  1. y year, m month, w week, Male M, Female F, LP likely pathogenic, VUS variant of uncertain significance, D predicted to be deleterious by multiple lines of computational evidences
  2. *Not an ACMG classification