Table 1 Summary of MFS cases with large deletions in the FBN1 gene
Variation | Affected domains | Patient age (y) | Phenotype in papers | Reference PMID (year) |
|---|---|---|---|---|
Deletion (FBN1 exon affected) | ||||
Single-exon deletion | ||||
FBN1:g.46,701,985_46,728,871(Ex1) | – | 25 | Classic MFS | 17,492,313(2002) |
FBN1:Ex1 | – | U | Classic MFS | 24,501,682(2013) |
FBN1:Ex1 | – | U | Classic MFS | 24,793,577(2014) |
FBN1:Ex2 | – | 52 | Classic MFS | 11,700,157(2001) |
FBN1:Ex3 | 1st EGF-like | U | MFS | 21,907,952(2011) |
FBN1:Ex6 | 3rd EGF-like | 49 | Potential MFS | 28,842,177(2017) |
FBN1:c.3603_3668del(Ex29) | 18th cbEGF-like | After birth | Neonatal MFS | 10,441,700(1999) |
FBN1:Ex30 | 19-20th cbEGF-like | < 1 | Suspected Beals-Hecht syndrome | 25,944,730(2015) |
FBN1:Ex32 | 21-22th cbEGF-like | 1 | Neonatal MFS | 18,412,115(2008) |
FBN1:Ex36 | 25-26th cbEGF-like | U | Classic MFS | 19,839,986(2009) |
FBN1:g.48,749,026_48,753,819del(Ex43) | 7th TB,29th cbEGF-like | 24 | Classic MFS | 30,286,810(2018) |
FBN1:g.48,734,801_48,730,690(Ex50) | 35th cbEGF-like | 14 | MFS | 30,286,810(2018) |
FBN1:Ex66 | COOH unique region | 47 | Classic MFS | Current report |
Multiple exon deletion | ||||
FBN1:Ex1–5 | 1-3rd EGF-like | 27 | Classic MFS | 21,936,929(2011) |
FBN1:Ex1–6 | 1-3rd EGF-like | 22 | Classic MFS | Current report |
FBN1:g.46,580,456_46,883,035(Ex1–16) | 1-3rd EGF-like,1st TB,4-10th cbEGF-like | 40 | Classic MFS | 17,492,313(2002) |
FBN1:Ex1–36 | 1-3rd EGF-like,1–5th TB,4-26th cbEGF-like | 15 | Classic MFS | 28,842,177(2017) |
FBN1:g.48,890,962_48,922,918(Ex2–4) | 1-2nd EGF-like | 32 | Classic MFS | 29,850,152(2018) |
FBN1:Ex6–65 | 3rd EGF-like,4-47th cbEGF-like,1-9th TB | U | Classic MFS | 24,793,577(2014) |
FBN1:Ex13–15 | 7-10th cbEGF-like | U | MFS | 33,436,942(2021) |
FBN1:Ex13–49 | 7-34th cbEGF-like,3-7th TB | 5 | MFS | 18,412,115(2008) |
FBN1:Ex18–22 | 3-4th TB,11-13th cbEGF-like | U | MFS | 31,730,815(2020) |
FBN1:Ex23–25 | 4-5th TB,14-15th cbEGF-like | U | MFS | 34,325,513(2021) |
FBN1:Ex24–26 | 14-16th cbEGF-like | After birth | Neonatal MFS | 20,455,198(2010) |
FBN1:Ex33–38 | 21-26th cbEGF-like,6th TB | 1 | Neonatal MFS | 24,199,744(2014) |
FBN1:Ex34–43 | 23-29th cbEGF-like,6-7th TB | 22 | Classic MFS | 19,863,550(2010) |
FBN1:Ex37–65 | 26-47th cbEGF-like,3-9th TB | U | Classic MFS | 24,793,577(2014) |
FBN1:Ex42–43 | 7th TB,29th cbEGF-like | > 46 | Classic MFS | 11,710,961(2001) |
FBN1:Ex44–46 | 29-31th cbEGF-like | > 6 | Childhood onset MFS | 11,710,961(2001) |
FBN1:Ex44–66 | 23-47th cbEGF-like,8-9th TB | 37 | Classic MFS | 30,286,810(2018) |
FBN1:Ex46–47 | 31-32th cbEGF-like | U | Juvenile onset MFS | 36,945,115(2023) |
FBN1:Ex48–53 | 33-37th cbEGF-like,8 TB | 15 | Neonatal MFS | 28,842,177(2017) |
FBN1:Ex49–50 | 34-35th cbEGF-like | 3 | Neonatal MFS | 28,842,177(2017) |
FBN1:Ex50–63 | 35-46th cbEGF-like,8-9th TB | 65 | MFS | 19,659,760(2009) |
FBN1:Ex58–63 | 41-46th cbEGF-like | 17 | Juvenile onset classic MFS | 17,189,636(2007) |
FBN1:Ex61–63 | 43-46th cbEGF-like | 48 | Classic MFS | 1,631,074(1992) |
FBN1:Ex1–66 | Full gene | 16 | Incomplete MFS | 20,478,419(2010) |
FBN1:Ex1–66 | Full gene | 42 | Classic MFS | 21,936,929(2011) |
FBN1:Ex1–66 | Full gene | 15 | Classic MFS | 21,936,929(2011) |
FBN1:Ex1–66 | Full gene | 12 | Classic MFS | 21,936,929(2011) |
FBN1:Ex1–66 | Full gene | 41 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 39 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 16 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 13 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 27 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 21 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 34 | MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 5 | Potential MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 13 | Potential MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 8 | Potential MFS | 21,063,442(2011) |
FBN1:Ex1–66 | Full gene | 13 | Classic MFS | 22,260,333(2012) |
FBN1:g.48,931,968_51,102,375(Ex1–66) | Full gene | 14 | MFS | 27,615,407(2016) |