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 |