Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen,

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Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen, Matti Lukka, Leena Peltonen The American Journal of Human Genetics Volume 64, Issue 4, Pages 993-1001 (April 1999) DOI: 10.1086/302309 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 A, Pedigree of the family with a mosaic mutation. The haplotypes formed by microsatellite markers are shown. Mts-2, -3, and -4 are multiallelic intragenic FBN1 polymorphisms, and CYP19 is a multiallelic polymorphism located in the immediate vicinity of FBN1 (Pereira et al. 1994; Rantamäki et al. 1994). “nd” denotes not determined. Blackened symbols denote affected individuals. The diamond-shaped symbol denotes a fetus. B, Nucleotide and amino acid sequence of exon 29 in the region of the mutation 3599A→G. Genomic DNA was sequenced from the father (I-1), mother (I-2), patient 1 (II-1), patient 2 (II-2), and the fetus (II-3). The heterozygous mutation is seen only in the patients' samples. The American Journal of Human Genetics 1999 64, 993-1001DOI: (10.1086/302309) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Schematic representation of the minisequencing strategy and location of the PCR and minisequencing primers. A and A-bio were used in the first PCR, B and B-bio in the nested PCR, and MS in the minisequencing assay. The nucleotide numbers defining the positions of the primers in the introns are given. “Bio” denotes a biotin residue. The American Journal of Human Genetics 1999 64, 993-1001DOI: (10.1086/302309) Copyright © 1999 The American Society of Human Genetics Terms and Conditions