Table 1 Meester-Loeys syndrome cohort extension led to the identification of BGN variants in thirteen additional families
From: Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Family ID | cDNA change | Protein change | Variant effect | Variant classification | Classification criteria |
|---|---|---|---|---|---|
1 | c.46delG | p.Ala16Profs*20 | Frameshift | Likely pathogenic variant | pathogenic very strong (PVS) 1, pathogenic moderate (PM) 2 |
2 | c.59_60insAA | p.Gln21Serfs*16 | Frameshift | Likely pathogenic variant | PVS1, PM2 |
3 | c.75 G > A | p.Trp25* | Nonsense | Likely pathogenic variant | PVS1, PM2 |
4 | c.75 G > A | p.Trp25* | Nonsense | Likely pathogenic variant | PVS1, PM2 |
5 | c.223 C > T | p.Gln75* | Nonsense | Likely pathogenic variant | PVS1, PM2 |
6 | c.351+1 G > A | p.Tyr117_Ala118insIleArgSerTrpGluGluProAlaGly-LeuGlnGlnArgAlaGlyValArg | Splice site, in-frame insertion | Variant of unknown significance | PM2, PM4 |
7 | c.441delinsAA | p.Asn148Lysfs*54 | Frameshift | Variant of unknown significance | PVS1 |
8 | c.441delinsAA | p.Asn148Lysfs*54 | Frameshift | Variant of unknown significance | PVS1 |
9 | c.565 G > A | p.Val174Argfs*20 or p.Glu189Lys | Missense, splice site, frameshift | Likely pathogenic variant | PVS1_strong, PM2, PP3 |
10 | c.677-2 A > G | p.Asp225_Leu236del | Splice site, in-frame deletion | Likely pathogenic variant | PM2, PM4_strong, pathogenic supporting (PP) 1 |
11 | c.677-2 A > T | p.Asp225_Leu236del | Splice site, in-frame deletion | Likely pathogenic variant | PM2, PM4_strong |
12 | c.770+1 G > A | p.? | Splice site, predicted frameshift | Likely pathogenic variant | PVS1_strong, PM2 |
13 | c.910-1 G > A | p.? | Splice site, predicted frameshift | Likely pathogenic variant | PVS1_strong, PM2 |
