TABLE 1.
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.