Fig. 2

Molecular analysis of c.1680C > A in FAM20C gene. a Sanger sequencing chromatograms showing both parents as heterozygous carriers for the variant c.1680C > A in FAM20C gene. b Diagrammatic representation of the 25 known variants in the FAM20C gene which are detected in patients with Raine syndrome, along with protein domain information. Different types of variants are represented in different colours (missense- purple, nonsense- red and splice site- pink). Variants associated with neonatal or early infancy deaths are highlighted in bold and variant that is underlined is observed in the present case