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Table 2 Patients with B4GALT7 variants: review of the literature

From: Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

   Hernandez
et al. (1979, 1981, 1986) [22–24]
Kresse et al. (1987) [14] Faiyaz-Ul-Haque et al. (2004) [15] Guo et al. (2013) [16] Cartault et al. (2015) [18] Arunrut et al. (2016) [13] Salter et al. (2016) [8] Ritelli et al. (2017) [12] Sandler-Wilson et al. (2019) [19] Mihalic Mosher et al. (2019) [17] Caraffi et al. (2019) [20] This study Total (patients with mutations)
Genetics B4GALT7 variants ? c.557C > A
c.617 T > A
c.808C > T
c.808C > T
c.122 T > C
c.808C > T
c.808C > T
c.808C > T
c.970 T > A
c.970 T > A
c.277dupC
c.641G > A;
c.421C > T
c.808C > T
c.829G > T
c.829G > T
c.421C > T
c.808C > T
c.398A > G
c.808C > T
c.277_278insC
c.628C > T
c.723 + 4A > G
c.641G > A
26/36 homozygous
10/36 compound heterozygous
  Variants on protein ? p.A186D
p.L206P
p.R270C
p.R270C
p.L41P
p.R270C
p.R270C
p.R270C
p.C324S
p.C324S
p.H93Pfs*73
p.C214Y;
p.R141W
p.R270C
p.E277*
p.E277*
p.R141W
p.R270C
p.Q133R
p.R270C
p.H93Pfs*73
p.H210Y
splicing
p.C214Y
 
Gender Male 5 1 1 1 11   1   1 1 1 2 20
  Female    1   11 1 1 1 1     16
Age   8,15,15, 16,18y 4y 9 m 2, 33y 10y 4 to 46y 5y 3y 6 m, 13y 30y 4,10y 1d† 7y 8 m 15, 18Y  
  1. Table modified from [20]