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Table 4 Overview of MFS cases with gross deletions in FBN1 gene

From: Identification of gross deletions in FBN1 gene by MLPA

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)
  1. NA not available
  2. *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