Fig. 1 | Journal of Human Genetics

Fig. 1

From: Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings

Fig. 1

A Pedigree of Family I. Black filled symbols refer to individuals with ESAM phenotype, gray filled symbols refer to individuals with obesity, and black and gray filled symbols refers to the co-occurrence of ESAM phenotype and obesity in Patient I.V.3. T/T, T/C are the genotypes of the MC4R variant in the family. B Portions of the sequencing electropherograms showing the segregation of the c.731-2A>G in the family. Arrow indicates the site of variant. C A schematic diagram and 1% agarose gel showing partial amplification of the cDNA of the ESAM (from exons 4 to 7) in Patient I.V.3 and a normal control subject. Note that the patient had a shorter band in comparison to normal control. D Portion of the sequencing electropherograms showing skipping of exon 6. E Pedigree of Family II. F Portions of the sequencing electropherograms showing the segregation of the c.561G>C (p.Trp187Cys) in the family. Arrow indicates the site of variant. G The conservation of the p.Trp187 across different species. H The prediced 3D structure resulting from the change of p.Trp187 (wild type) to p.Cys187 (mutant) using PremPS tool. This substitution significantly alters the bonding network and the number of interacting amino acids within the protein structure. I Schematic diagram showing the ESAM and its protein domains and the location of all reported variants to date including our new variants (in red)

Back to article page