Table 1.
Clinical and Molecular Findings in Individuals with TNXB Haploinsufficiency/Reduced Serum TNX Levels
| Individuala (Sex) | Yearof Birth | Mutation | BeightonScore | TNX Level(% of Control) | Clinical Feature(s) |
| AIII2 (F) | 1961 | [GT44906] ins | 5/9 | 52 | Velvety skin, piezogenic papules, back pain |
| AIII3 (M) | 1964 | [GT44906] ins | 4/9 | 57 | Loss of pliancy, Raynaud phenomenon |
| AIII6 (F) | 1974 | [GT44906] ins | 6/9 | 59 | Velvety skin, Raynaud phenomenon |
| AIII7 (F) | 1977 | [GT44906] ins | 5/9 | 52 | Striae |
| AIII8 (F) | 1981 | [GT44906] ins | 5/9 | 50 | Ankle sprains, knee pain |
| AIII9 (F) | 1984 | [GT44906] ins | 5/9 | 68 | Velvety skin |
| BI4 (M) | 1931 | Unknown | 0/9 | 56 | Multiple ankle sprains |
| BIII1 (F) | 1976 | Unknown | 5/9 | 65 | |
| BIII2 (F) | 1979 | Unknown | 5/9 | 62 | Wheelchair dependent, joint pain |
| BIII3 (F) | 1981 | 30-kb del | 5/9 | 62 | Joint pain |
| CI1 (M) | 1919 | [AA56063] del | 0/9 | 55 | |
| CI5 (F) | 1924 | [AA56063] del | ND | 54 | |
| CII1 (F) | 1944 | [AA56063] del | 1/9 | 46 | |
| CIII3 (F) | 1978 | [AA56063] del | 3/9 | 45 | Piezogenic papules, lymphedema |
| CIII4 (F) | 1980 | [AA56063] del | 6/9 | 53 | Velvety skin, multiple (sub)luxations |
| CIII5 (M) | 1981 | [AA56063] del | 0/9 | 57 | |
| DI1 (M) | 1919 | 30-kb del | 0/9 | 53 | Velvety skin |
| DI2 (F) | 1931 | 30-kb del | 0/9 | 54 | Multiple fractures |
| DII1 (F) | 1962 | 30-kb del | 2/9 | 59 | |
| DII2 (M) | 1964 | 30-kb del | 2/9 | 61 | Piezogenic papules |
| E (F) | 1961 | 30-kb del | 3/9 | 58 | Chronic joint pain, multiple (sub)luxations, wheelchair dependent, HT-EDS/BJHS according to Brighton criteria |
| F (F) | 1970 | [AA56063] del | 6/9 | 52 | |
| G1 (F) | 1972 | Unknown | 6/9 | 56 | Luxations, velvety skin, piezogenic papules |
| G2 (F) | 1977 | Unknown | 6/9 | 61 | Chronic pain, subluxations of multiple joints |
| H (F) | 1961 | Unknown | 2/9 | 64 | Wheelchair dependent, chronic musculoskeletal pain, shoulder luxations, HT-EDS/BJHS according to Brighton criteria |
| I (F) | 1954 | Unknown | ND | 65 | Diagnosis of HT-EDS |
| J (F) | 1974 | Unknown | ND | 54 | Diagnosis of HT-EDS |
a
Pedigrees for families A–D are depicted in figure 1. Patients E–J were identified in a cohort with HT-EDS. G2 is a sister of G1 and was identified independently of the screening of the 80 patients with HT-EDS/BJHS. We examined all patients available for study except individuals I and J.
b
ND = not determined.