Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

Figures

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  FIGURE 1. The demonstration of protein architecture and mutation classification strategy of FBN1 gene. (A) The protein architecture of FBN1. The regions in previous genotype-phenotype studies or mechanism studies were shown in colored blocks, including N terminus (exons 1–21), middle region (exons 22–42), C-terminus (exons 43–65), FUN-EGF region (exons 1–11), neonatal region (exons 24–32), TGFβ-regulating region (exons 43–65), DN-CD region (exons 25–36 and exons 43–49). Exons of strong genotype-phenotype correlations were marked, including exon 25 (poorest prognosis), exon 26 (microspherophakia), exon 37 (stiff skin syndrome), exons 41–42 (geleophysic and acromicric dysplasia), exon 64 (marfanoid–progeroid–lipodystrophy syndrome). (B) The strategy of mutation classification of FBN1. Mutations were first broadly divided into HI and DN groups. DN mutations were further classified according to the affected residue or affected regions. DN mutations were classified as DN (-Cys), DN (+Cys), and DN (Calcium-binding), and DN (Others) based on the affected residues. The classification of affected regions was demonstrated in (A). DN, dominant-negative effect; DN (-Cys), DN mutations eliminating…

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  FIGURE 2. The visualization analysis of genotype-phenotype correlations in patients with MFS and related fibrillinopathies. A heatmap was applied to describe the major conclusions of genotype-correlation studies, with the positive correlations in red, negative correlations in blue; insignificant correlations in green; not-studied correlations in yellow. Minor conclusions or special considerations were shown in the note column. The proportions of positive correlations were shown in the last row.