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. 2023 Aug 30;14:1234804. doi: 10.3389/fgene.2023.1234804

TABLE 1.

Nine unrelated clEDS patients with homozygous or compound heterozygous pathogenic variants in TNXB (NM_019105.6).

Patient No. Sex Age at last observation (years) Allele 1 Allele 2 Serum Tenascin-X
1 Female 60 Exons 2–3 deletion Exons 2–3 deletion N/A
2 Male 65 Gene conversion (type 1) including c.11435_11524 + 30del Gene conversion (type 1) including c.11435_11524 + 30del Absence
Son Male 32 Gene conversion (type 1) including c.11435_11524 + 30del N/A
3 Male d.62 c.1650_1651del,p.(Glu552Argfs*41) c.1650_1651del,p.(Glu552Argfs*41) N/A
Daughter Female 21 c.1650_1651del,p.(Glu552Argfs*41) N/A
4 Female 27 c.10274C>G,p.(Ser3425*) TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G N/A
Father Male N/A c.10274C>G,p.(Ser3425*) N/A
Mother Female N/A TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G N/A
Brother Male N/A TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G N/A
5 Female 47 c.6948del,p.(Asp2317Thrfs*53) TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G Absence
Father Male 77 TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G Reduction
Mother Female 75 c.6948del,p.(Asp2317Thrfs*53) Reduction
Sister Female 52 TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G Reduction
6 Female 59 Gene conversion (type 2) including c.12174C>G Gene conversion (type 2) including c.12174C>G Absence
7 Male 61 Gene conversion (type 1) including c.11435_11524 + 30del TNXB/TNXA fusion gene (type 2) including c.12174C>G Absence
8 Female 8 c.8585G>A,p.(Trp2862*) Gene conversion (type 1) including c.11435_11524 + 30del N/A
Father Male 48 Gene conversion (type 1) including c.11435_11524 + 30del N/A
Mother Female 48 c.8585G>A,p.(Trp2862*) N/A
9 Female 69 c.9271dup,p.(Gln3091Profs*31) TNXB/TNXA fusion gene (type 1) including c.11435_11524 + 30del and c.12174C>G N/A

d, Died; N/A, not available.