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

Bold values indicate significant results.

*p < 0,05.

Q1;Q3, first and third interquartile; SD, standard deviation.