Table 2 Clinical features compared within Chinese and French WDSTS patients
Chinese cohort (N = 16; %) | French cohort (N = 33; %) (Ref. 11) | P value (χ2 test) | |
|---|---|---|---|
General information | |||
Gender | F8 (50%)/M8 (50%) | F11 (33%)/M22 (67%) | 0.261 |
Age at last examination (years) | 1.5 to 25 | 3 to 36 | |
Postnatal growth retardation (H) | 12/16 (75%) | 15/32 (47%) | 0.064 |
Postnatal growth retardation (W) | 9/14 (64%) | 11/30 (37%) | 0..087 |
Postnatal growth retardation (H + W) (HPO:0008897) | 8/14 (57%) | 9/30 (30%) | 0.085 |
KMT2A variants | 15 different variants | 29 different variants | 0,639 |
Nonsense variants | 6 | 8 | |
Frameshift variants | 6 | 12 | |
Missense variants | 2 | 8 | |
Splicing variants | 1 | 1 | |
Craniofacial features | |||
Microcephaly (HPO:0000252) | 8/16 (50%) | 10/30 (33%) | 0.270 |
Hypertelorism (HPO:0000316) | 13/16 (81%) | 21/32 (66%) | 0.432 |
Ptosis (HPO:0000508) | 10/16 (63%) | 5/32 (16%) | 0.001 |
Down-turned palpebral fissures (HPO:0000494) | 12/16 (75%) | 18/31 (58%) | 0.252 |
Wide nasal bridge (HPO:0000431) | 10/16 (63%) | 22/31 (71%) | 0.555 |
Long philtrum (HPO:0000343) | 9/16 (56%) | 20/32 (63%) | 0.676 |
Low set ears (HPO:0000368) | 6/16 (38%) | 15/30 (50%) | 0.418 |
Thin upper lip (HPO:0000219) | 8/16 (50%) | 24/32 (75%) | 0.083 |
Skeletal anomalies | |||
Advanced bone age (HPO:0200001) | 2/10 (20%) | 7/15 (47%) | 0.229 |
Delayed bone age (HPO:0003799) | 7/10 (70%) | 5/15 (33%) | 0.111 |
Brachydactyly (HPO:0001156) | 8/16 (50%) | 9/29 (31%) | 0.209 |
Clinodactyly (HPO:0030084) | 4/16 (25%) | 6/28 (21%) | 1.000 |
Sacral dimple (HPO:0000960) | 4/16 (25%) | 8/25 (32%) | 0.631 |
Hairiness | |||
Thick eyebrows (HPO:0000574) | 6/16 (38%) | 23/29 (79%) | 0.005 |
Long eyelashes (HPO:0000527) | 15/16 (94%) | 24/32 (75%) | 0.239 |
Hypertrichosis, cubiti (HPO:0000998) | 7/16 (44%) | 19/31 (61%) | 0.252 |
Hypertrichosis, back (HPO:0000998) | 12/16 (75%) | 21/31 (68%) | 0.858 |
Hypertrichosis, lower limbs (HPO:0000998) | 8/16 (50%) | 9/24 (38%) | 0.433 |
Developmental and neurology | |||
Walking delay (HPO:0031936) | 10/16 (63%) | 19/31 (61%) | 0.936 |
Language delay (HP:0000750) | 12/14 (86%) | 24/30 (80%) | 0.970 |
Intellectual disability (HPO:0001249) | 14/15 (93%) | 33/33 (100%) | 0.683 |
Aggressive behavior (HPO:0000718) | 4/16 (25%) | 4/31 (13%) | 0.525 |
Organic problems | |||
Strabismus (HPO:0000486) | 3/14 (21%) | 7/32 (22%) | 1.000 |
Hyperopia (HPO:0008499) | 1/14 (7%) | 9/32 (28%) | 0.230 |
Cardiac anomaly | 3/16 (19%) | 8/22 (36%) | 0.412 |
Feeding difficulties (HPO:0011968) | 5/16 (31%) | 20/31 (65%) | 0.030 |