Close
 Indian J Med Microbiol  
 

Figure 4. Pedigree showed: blank individuals (1101 and 1201) showing normal phenotype and homozygous normal for the sequenced segment of FBN1 gene (exon 52). Half shadowed individuals (1102, 1202, 1204) showed MFS phenotype with still normal renal function and a disease-causing (missense) mutation in exon 52 of FBN1; c.6388G>A (p.Glu2130Lys) in a heterozygous state. Proband (1203; half shadowed, half black, and assigned by an arrow) showed the same phenotype and genotype of half shadowed individuals but with renal involvement.

Figure 4. Pedigree showed: blank individuals (1101 and 1201) showing normal phenotype and homozygous normal for the sequenced segment of <i>FBN1</i> gene (exon 52). Half shadowed individuals (1102, 1202, 1204) showed MFS phenotype with still normal renal function and a disease-causing (missense) mutation in exon 52 of <i>FBN1</i>; c.6388G>A (p.Glu2130Lys) in a heterozygous state. Proband (1203; half shadowed, half black, and assigned by an arrow) showed the same phenotype and genotype of half shadowed individuals but with renal involvement.