Table 4.
Overview of MFS cases with gross deletions in FBN1 gene
| Variation | Patient | Reference PMID (year) | ||
|---|---|---|---|---|
| Deletion (FBN1 exon affected) | Affected domains | Age (y) | Phenotype in papers | |
| Single-exon deletion | ||||
| FBN1:g.46,701,985_46,728,871 (Ex1) | – | 25 | Classic MFS | 17492313 (2002) |
| FBN1:Ex1 | – | NA | Classic MFS | 24501682 (2013) |
| FBN1:Ex1 | – | NA | Classic MFS | 24793577 (2014) |
| FBN1:Ex2 | – | 52 | Classic MFS | 11700157 (2001) |
| FBN1:Ex3 | 1st EGF-like | NA | MFS | 21907952 (2011) |
| FBN1:Ex6 | 3rd EGF-like | 49 | Potential MFS | 28842177 (2017) |
| FBN1:c.3603_3668 del (Ex29) | 18th cbEGF-like | After birth | Neonatal MFS | 10441700 (1999) |
| FBN1:Ex30 | 19–20th cbEGF-like | < 1 | Suspected Beals-Hecht syndrome | 25944730 (2015) |
| FBN1:Ex32 | 21–22th cbEGF-like | 1 | Neonatal MFS | 18412115 (2008) |
| FBN1:Ex36 | 25–26th cbEGF-like | NA | Classic MFS | 19839986 (2009) |
| FBN1:g.48,749,026_48,753,819 del (Ex43) | 7th TB, 29th cbEGF-like | 24 | Classic MFS | In this study |
| FBN1:g.48,734,801-48,730,690 del (Ex50) | 35th cbEGF-like | 14 | MFS | In this study |
| FBN1:Ex52 | 8th TB, 36th cbEGF-like | 40 | Classic MFS | 11700157 (2001) |
| FBN1:g.48,727,672-48,726,338 del (Ex54) | 37–38th cbEGF-like | 5 | MFS | In this study |
| FBN1:g.48,724,560_48,722,281 del (Ex56) | 39–40th cbEGF-like | 38 | Classic MFS | In this study |
| Multi-exon deletion | ||||
| FBN1:Ex1–5 | 1–3rd EGF-like | 27 | Classic MFS | 21936929 (2011) |
| FBN1:g.46,580,456_46,883,035 (Ex1-16) | 1–3rd EGF-like, 1st TB, 4–10th cbEGF-like | 40 | Classic MFS | 17492313 (2002) |
| FBN1:Ex1–36 | 1–3rd EGF-like, 4–26th cbEGF-like, 1–5th TB | 15 | Classic MFS | 28842177 (2017) |
| FBN1:g.48,890,962_48,922,918 (Ex2-4) | 1–2nd EGF-like | 32 | Classic MFS | 29850152 (2018) |
| FBN1:Ex6–65 | 3rd EGF-like, 4–47th cbEGF-like, 1–9th TB | NA | Classic MFS | 24793577 (2014) |
| FBN1:Ex13–49 | 7–34th cbEGF-like, 3–7th TB | 5 | MFS | 18412115 (2008) |
| FBN1:Ex24–26 | 14–16th cbEGF-like | After birth | Neonatal MFS | 20455198 (2010) |
| FBN1:Ex33–38 | 21–26th cbEGF-like, 6th TB | 1 | Neonatal MFS | 24199744 (2014) |
| FBN1:Ex34–43 | 23–29th cbEGF-like, 6–7th TB | 22 | Classic MFS | 19863550 (2010) |
| FBN1:Ex37–65 | 26–47th cbEGF-like, 3–9th TB | NA | Classic MFS | 24793577 (2014) |
| FBN1:Ex42–43 | 7th TB, 29th cbEGF-like | > 46 | Classic MFS | 11710961 (2001) |
| FBN1:Ex44–46 | 29–31th cbEGF-like | > 6 | Childhood onset MFS | 11710961 (2001) |
| FBN1:Ex44–66 | 29–47th cbEGF-like, 8–9th TB | 37 | Classic MFS | In this study |
| FBN1:Ex48–53 | 33–37th cbEGF-like, 8th TB | 15 | Neonatal MFS | 28842177 (2017) |
| FBN1:Ex49–50 | 34–35th cbEGF-like | 3 | Neonatal MFS | 28842177 (2017) |
| FBN1:Ex50–63 | 35–46th cbEGF-like, 8–9th TB | 65 | MFS | 19659760 (2009) |
| FBN1:Ex58–63 | 41–46th cbEGF-like | 17 | Juvenile onset classic MFS | 17189636 (2007) |
| FBN1:c.7456_7821 del* (Ex61–64) | 43–46th cbEGF-like | 48 | Classic MFS | 1631074 (1994) |
| Whole gene deletion | ||||
| FBN1:Ex1–66 | Full gene | 16 | Incomplete MFS | 20478419 (2010) |
| FBN1:Ex1–66 | Full gene | 42 | Classic MFS | 21936929 (2011) |
| FBN1:Ex1–66 | Full gene | 15 | Classic MFS | 21936929 (2011) |
| FBN1:Ex1–66 | Full gene | 12 | Classic MFS | 21936929 (2011) |
| FBN1:Ex1–66 | Full gene | 41 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 39 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 16 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 13 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 27 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 21 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 34 | MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 5 | Potential MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 13 | Potential MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 8 | Potential MFS | 21063442 (2011) |
| FBN1:Ex1–66 | Full gene | 13 | Classic MFS | 22260333 (2012) |
| FBN1:g.48,931,968_51,102,375 (Ex1–66) | Full gene | 14 | MFS | 27615407 (2016) |
NA not available
*The deletion was represented as nt. 4762_5127 in partial cloned sequence of FBN1 (PMID:1852207), and it was converted into its standardized nomenclature in accordance with HGVS (Human Genome Variation Society), in which the position + 1 corresponds to the A of the ATG start codon of the mRNA reference sequence (GenBank NM_000138) at the cDNA (c) level. Except for this, all of the other nucleotide positions and patient phenotypes were shown as it was reported in the reference article