Table 1 Genetic information of 16 CD patients (Study group)
From: The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Patient | cDNA variant | Protein variant | Type of mutation | ACMG classification of variant (pathogenic, likely pathogenic, VOUS) | Previously reported (yes/no) |
|---|---|---|---|---|---|
1/1 | c.[914C > A];[914C > A] | p.[Ala305Glu];[Ala305Glu] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
2/1 | c.[854A > C];[854A > C] | p.[Glu285Ala];[Glu285Ala] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
3/1 | c.[914C > A];[914C > A] | p.[Ala305Glu];[Ala305Glu] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
4/1 | c.[859G > A];[914C > A] | p.[Ala287Thr];[Ala305Glu] | Missense/missense | Pathogenic/likely pathogenic | Yes/yes |
5/1 | c.[854A > C];[914C > A] | p.[Glu285Ala];[Ala305Glu] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
6/1 | c.[541C > A];[426C > A] | p.[Pro181Thr];[Tyr142*] | Missense/nonsense | Likely pathogenic/pathogenic | Yes/no |
7/1a | c.[634 + 1G > T];[634 + 1G > T] | p.[?];[?] | Splice site/splice site | Pathogenic/pathogenic | Yes/yes |
7/2 a | c.[634 + 1G > T];[634 + 1G > T] | p.[?];[?] | splice site/splice site | pathogenic/pathogenic | Yes/yes |
8/1 | c.[914C > A];[362A > T] | p.[Ala305Glu];[Asn121Ile] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
9/1 | c.[878_880delAAG];[?] | p.[Glu293del];[?] | In frame del/? | Likely pathogenic/? | Yes/? |
10/1 | c.[885dupT];[?] | p.[Ala296Cysfs*5];[?] | Frameshift/? | Pathogenic/? | No/? |
11/1 | c.[838C > T];[79G > T] | p.[Pro280Ser];[Gly27*] | Missense/nonsense | Pathogenic/pathogenic | Yes/yes |
12/1 | c.[296delT];[296delT] | p.[Leu99Tyrfs*38];[Leu99Tyrfs*38] | Monsense/nonsense | Pathogenic/pathogenic | No/no |
13/1 | c.[854A > C];[693C > A] | p.[Glu285Ala];[Tyr231*] | Missense/missense | Likely pathogenic/pathogenic | Yes/yes |
14/1 a | c.[914C > A];[914C > A] | p.[Ala305Glu];[Ala305Glu] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |
14/2 a | c.[914C > A];[c.914C > A] | p.[Ala305Glu];[Ala305Glu] | Missense/missense | Likely pathogenic/likely pathogenic | Yes/yes |