Table 2 Summary of clinical findings in our and the previously published families with Intellectual Disability (ID) type Nascimento (OMIM #300860)
Nascimento et al. | Budny et al. (Fam 1) | Budny et al. (Fam 2) | Honda et al. | De Leeuw et al. (Pat A) | De Leeuw et al. (Pat B) | De Leeuw et al. (Pat C) | Haddad et al. (Fam 1) | Haddad et al. (Fam 2) | Family A (Pat 1–3) | Family B (Pat 4–5) | Pat 6 | Pat 7 | Pat 8 | in total | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutation | Truncating | Missense | Missense | Deletion | Deletion | Deletion | Deletion | Truncating | Missense | Deletion | Missense | Truncating | Deletion | Deletion | 7 Deletions |
p.Q128X | p.G23R | p.R11Q | (370 kb) | (350 kb) | (240 kb) | (360 kb) | p.I87Mfs*14 | p.R7W | (7.1 kb) | p.P79R | p.Y130Vfs*9 | (261 kb) | (38 kb) | 7 Mutations | |
No[a] | 3 | 4 | 1 | 2 | 1 | 1 | 1 | 2 | 3 | 3 | 2 | 1 | 1 | 1 | 26 |
Skewed X-inactivation in carriers | yes | yes | n.r. | yes | yes | yes | yes | n.r. | yes | yes | yes | de novomutation | yes | yes | in all female carriers investigated |
Intellectual disability | 3/3 | 4/4 | 1/1 | 2/2 | 1/1e | 1/1 | 1/1 | 2/2 | 3/3 | 3/3 | 2/2 | 1/1 | 1/1 | 1/1 | 26/26 (100%) |
Motor delay | 3/3 | 4/4 | 1/1 | 2/2 | 1/1 | 1/1 | 1/1 | 2/2 | 3/3 | 3/3 | 2/2 | 1/1 | 1/1 | 1/1 | 26/26 (100%) |
Speech impairment | 3/3 | 4/4 | 1/1 | 2/2 | 1/1 | 1/1 | 1/1 | 2/2 | 3/3 | 3/3 | 2/2 | 1/1 | 1/1 | (1/1) | 26/26 (100%) |
Facial dysmorphism | 3/3 | 4/4 | 1/1 | 2/2 | 1/1 | 1/1 | 1/1 | 2/2 | (3/3) | 3/3 | 2/2 | 1/1 | 1/1 | 1/1 | 26/26 (100%) |
Skin changes | 3/3 | 3/4 | 1/1 | 2/2 | 1/1 | 0/1 | 1/1 | 1/2 | 2/3 | 3/3 | 2/2 | 1/1 | 0/1 | 0/1 | 20/26 (77%) |
Hirsutism | 3/3 | 3/4 | 1/1 | 2/2 | 0/1 | 0/1 | 1/1 | 2/2 | 0/3 | 2/3 | 2/2 | 0/1 | (1/1) | 0/1 | 17/26 (65%) |
Urogenital anomalies | 3/3 | 3/4 | 1/1 | 2/2 | 1/1 | 1/1 | 1/1 | 0/2 | 2/3 | 1/3 | 0/2. | 1/1 | 0/1 | 1/1 | 17/26 (65%) |
Seizures | 3/3 | 3/4 | 0/1 | 2/2 | 1/1 | 1/1 | 1/1 | 0/2 | 0/3 | 2/3 | 1/2 | 1/1 | 1/1 | 0/1 | 16/26 (62%) |
Behavioural abnormalities | n.r. | 2/2 | n.r. | n.r. | n.r. | n.r. | n.r. | 1/2 | 2/3 | 1/3 | 0/2 | 1/1 | 1/1 | n.r. | 8/14 (57%) |
White matter abnormalities | 2/2 | 0/2 | n.r. | 2/2 | 1/1 | 1/1 | 0/1 | 0/1 | 1/2 | 0/1* | 0/2 | 0/1* | 1/1 | n.e. | 8/17 (47%) |
Heart defect | 0/3 | 0/4 | 0/1 | 2/2 | 1/1 | 1/1 | 1/1 | 1/2 | 0/3 | 1/3 | 0/2 | 1/1 | 1/1 | 1/1 | 10/26 (38%) |