Gene | Patient | Sex | Type of Mutation | Nucleotide | Protein | Zygosity | Segregation | Age of onset (years) | ACMG hazard level | Ref |
---|
GALNS | 1st | M | Missense | c.575A>G; | p.E192G | het | m | | Likely pathogenic | ND |
| | | | | | | | 6 | | |
| | | Terminator | c.1567T>G; | p.X523E | het | f | | Pathogenic | [3] |
GALNS | 2nd | M | Missense | c.488C>A; | p.P163H | hom | ND | 3 | Likely pathogenic | [4] |
- ACMG According to the American College of Medical Genetics and Genomics guidelines, Ref Reference, het Heterozygous, hom Homozygous, M Male, m Mother, f Father, ND No data or not done