Table 3 Summary of five patients with compound heterozygosity in B3GAT3
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 |