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Table 3 Genotype

From: Natural history of non-lethal Raine syndrome during childhood

Pedigree number and referenceCase ICase IICase IIICase IV [8]Case V [17]Case V I[9]Case VII [9]
Mutation(s) in FAM20C genec.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 geneExon 7Exon 7Exon 1Exon 10Exon 6Exon 2Exon 2
Type of mutationHomozygousHomozygousHomozygousHomozygousHomozygousHomozygousHomozygous
Variant interpretationPathogenic based on LOVD databasePathogenic based on LOVD databasePathogenic based on PVS1 PM2 PP4Pathogenic according to ACMG guidelinesPathogenic according to ACMG guidelinesPathogenic 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 methodsSangerNGSNGSNGS and SangerSangerNGSSanger
  1. ACMG American College of Medical Genetics and Genomics; LOVD Leiden Open Variation Database; NGS next generation sequencing