Table 2 Clinical comparisons of TBS patients carrying variants located upstream (n = 26) or downstream (n = 200) of the glutamine-rich region, and carrying variants located upstream (n = 109) or downstream (n = 117) of the middle of the mutational hotspot, from the present series and the literature.
Variable | Variant location | ||||||
|---|---|---|---|---|---|---|---|
Upstream or into the glutamin-rich domain region | Downstream of the glutamin-rich domain region | p value | Upstream of the middle of the mutational hotspot | Downstream of the middle of the mutational hotspot | p value | ||
Sex | Male (%) | 13/25 (52.0) | 99/193 (51.3) | 0.95 | 61/105 (58.1) | 51/113 (45.1) | 0.056 |
Female (%) | 12/25 (48.0) | 94/193 (48.7) | 44/105 (41.9) | 62/113 (54.9) | |||
Age | Available data | 20/26 | 99/200 | 0.033* | 70/109 | 49/117 | 0.36 |
Median [Q1;Q3] | 30.50 [4.000;44.00] | 8.000 [2.670;28.00] | 6.900 [2.250;35.00] | 13.00 [5.000;31.00] | |||
Clinical features (%) | Deafness | 11/24 (45.8) | 130/193 (67.4) | 0.037* | 80/107 (74.8) | 61/110 (55.5) | 0.003* |
Dysplastic ear | 14/24 (58.3) | 162/190 (85.3) | 0.003* | 88/105 (83.8) | 88/109 (80.7) | 0.56 | |
Thumb malformation | 13/26 (50.0) | 146/196 (74.5) | 0.009* | 81/109 (74.3) | 78/113 (69.0) | 0.38 | |
Malformation of lower limb | 11/25 (44.0) | 94/189 (49.7) | 0.59 | 62/107 (57.9) | 43/107 (40.2) | 0.009* | |
Ano-rectal malformation | 15/24 (62.5) | 127/191 (66.5) | 0.70 | 71/106 (67.0) | 71/109 (65.1) | 0.78 | |
Kidney malformation | 6/17 (35.3) | 88/188 (46.8) | 0.36 | 48/99 (48.5) | 46/106 (43.4) | 0.46 | |
Chronic renal failure | 12/24 (50.0) | 55/188 (29.3) | 0.040* | 39/105 (37.1) | 28/107 (26.2) | 0.086 | |
Genital anomalies | 2/26 (7.7) | 30/191 (15.7) | 0.38 | 23/108 (21.3) | 9/109 (8.3) | 0.007* | |
Congenital heart defect | 1/18 (5.6) | 39/188 (20.7) | 0.21 | 24/99 (24.2) | 16/107 (15.0) | 0.092 | |
Endocrine feature | 7/23 (30.4) | 29/190 (15.3) | 0.079 | 18/106 (17.0) | 18/107 (16.8) | 0.975 | |
