Table 3 Genotype
From: Natural history of non-lethal Raine syndrome during childhood
Pedigree number and reference | Case I | Case II | Case III | Case IV [8] | Case V [17] | Case V I[9] | Case VII [9] |
|---|---|---|---|---|---|---|---|
Mutation(s) in FAM20C gene | c.1351G > A (p.Asp451Asn) | c.1351G > A (p.Asp451Asn) | c.496G > T (p.E166X) | c1630C > T (p.Arg544Trp) | c.1135G > A (p.G379R) | c.676 T > A (p.Trp226Arg) | c.676 T > A. (p.Trp226Arg) |
Exon/Intron of gene | Exon 7 | Exon 7 | Exon 1 | Exon 10 | Exon 6 | Exon 2 | Exon 2 |
Type of mutation | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous |
Variant interpretation | Pathogenic based on LOVD database | Pathogenic based on LOVD database | Pathogenic based on PVS1 PM2 PP4 | Pathogenic according to ACMG guidelines | Pathogenic according to ACMG guidelines | Pathogenic based on: SIFT (score0) Polyphen-2 (score 0.993) Mutation Taster (score 0.999) | Pathogenic based on: SIFT (score0) Polyphen-2 (score 0.993) Mutation Taster (score 0.999) |
Sequencing methods | Sanger | NGS | NGS | NGS and Sanger | Sanger | NGS | Sanger |