Table 1 Summary of clinical signs according to molecular defects
|  | All (n = 48) | Patients with 2 mutations in TTC37(n = 22) | Patient with 1 mutation in TTC37(n = 3) | Patient with 2 mutations in SKIV2L(n = 7) | Patients not tested (n = 16) | Patient from Alqoed (n = 7) | Patient with mutation p.Trp936X (n = 5) |
|---|---|---|---|---|---|---|---|
Consanguineous | 21/44 | 14/21 | 0/3 | 4/7 | 3/13 | 6/7 | 5/5 |
Born before 37 we | 19/45 | 11/21 | 2/3 | 3/6 | 3/15 | 1/7 | 2/5 |
Sex (F/M) | 27/20 | 13/9 | 1/2 | 5/2 | 8/7 | 4/3 | 3/2 |
Birthweight mean | 1825 (780–3.580) | 1906 (780–3580) | 1715 (1345–2100) | 1473 (1010–2000) | 1896 (1410–3250) | 2.61 (1.6-3.9) | 1986 (1375–2400) |
Intractable diarrhea | 48/48 | 22/22 | 3/3 | 7/7 | 16/16 | 7/7 | 5/5 |
Onset of diarrhoea (weeks) means | 5.25 (1–32) | 6.8 (1–32) | 4 | 3.7 (1–4) | 4.9 (1–24) | 2 (1–5.7) |  |
Facial dysmorphy | 47/47 | 22/22 | 3/3 | 6/6 | 16/16 | 6/7 | 5/5 |
Hair abnormalities | 48/48 | 22/22 | 3/3 | 7/7 | 16/16 | 6/7 | 5/5 |
Trichorhexis nodosa | 35/39 | 18/19 | 2/3 | 6/6 | 9/11 | 2/5 | 4/4 |
Immune deficiency | 39/44 | 19/20 | 3/3 | 4/7 | 13/14 | 0/7 | 4/5 |
IUGR/SGA | 31/46 | 12/21 | 2/3 | 5/7 | 12/15 | 5/7 | 5/5 |
Liver disease | 23/44 | 11/19 | 0/3 | 3/6 | 9/16 | 2/7 | 2/3 |
Skin abnormalities | 18/36 | 9/19 | 0/2 | ¾ | 6/11 | 7/7 | 2/5 |
Platelet abnormalities | 5/21 | 5/17 | 0/2 | 0/2 | Â | Â | 2/3 |
Cardiac abnormalities | 8/31 | 5/18 | 1/2 | 1/3 | 1/8 | Â | 2/5 |
Outcome (died/alive) | 18/30 | 5/17 | 0/3 | 2/5 | 11/5 | Â | 3/2 |