Table 2.
Clinical Features of the patient and reported SHORT patients with Mutations in PIK3R1
| The proband | Domain | ||||||
|---|---|---|---|---|---|---|---|
| na | iSH2 | cSH2 | na | ||||
| Mutation site | Exon 15 | Intron 11 | Exon 12 | Exon 13 | Exon 15 | Exon 16 | Total |
| Number of cases | 1 | 3 | 1 | 1 | 36 | 2 | 43 |
| Sex | F | F1/M2 | F | M | F21/M15 | M2 | F23/M20 |
| Premature birth | – | 0/2 | 1/1 | 1/1 | 5/22 | nd | 7/26 |
| IUGR | + | nd | 1/1 | 1/1 | 26/28 | 0/2 | 28/32 |
| Weight at birth <3rd per | + | 2/2 | 1/1 | 1/1 | 25/27 | 0/2 | 29/33 |
| OFC at birth <3rd per | nd | 0/1 | 1/1 | 1/1 | 9/13 | nd | 11/16 |
| SHORT acronym signs | |||||||
| Short stature | + | 1/3 | 1/1 | 1/1 | 30/34 | 0/2 | 33/41 |
| Hyperextensibility of joints | – | 1/2 | 0/1 | 0/1 | 7/25 | 0/2 | 8/31 |
| Ocular depression | – | 1/1 | 1/1 | 1/1 | 30/32 | 2/2 | 35/37 |
| Rieger anomaly | – | nd | 0/1 | 0/1 | 14/33 | 2/2 | 16/37 |
| Teething delay | + | 2/2 | 1/1 | 1/1 | 21/22 | 1/1 | 26/27 |
| Other signs | |||||||
| Characteristic facial dysmorphim | + | 3/3 | 1/1 | 1/1 | 36/36 | 2/2 | 43/43 |
| Progeroid appearance | + | 2/2 | nd | nd | 14/14 | nd | 16/16 |
| Lipoatrophy | – | 2/2 | 1/1 | 1/1 | 30/35 | 0/2 | 34/41 |
| Thin, wrinkled skin with readily visible veins | nd | 1/1 | 1/1 | 1/1 | 15/20 | 0/2 | 18/25 |
| Ophthalmological abnormalities | |||||||
| Glaucoma | – | nd | nd | nd | 3/13 | nd | 3/13 |
| Hyperopia | – | nd | 1/1 | 1/1 | 5/10 | 0/2 | 7/14 |
| Astigmatism | – | nd | 0/1 | 1/1 | 4/12 | nd | 5/14 |
| Myopia | + | nd | 0/1 | 0/1 | 5/13 | nd | 5/15 |
| Overcrowded teeth | + | 1/1 | nd | nd | 4/5 | nd | 5/6 |
| Delayed bone age | – | nd | 1/1 | 1/1 | 4/8 | nd | 6/10 |
| Inguinal hernia | nd | nd | 0/1 | 0/1 | 3/19 | nd | 3/21 |
| Intellectual deficiency | – | 1/3 | nd | nd | 2/17 | 0/2 | 3/22 |
| Speech delay | – | 1/1 | 1/1 | 1/1 | 10/18 | 1/2 | 14/23 |
| Diabetes | – | nd | 0/1 | 0/1 | 10/21 | nd | 10/23 |
| Insulin resistance | + | nd | 1/1 | 1/1 | 11/20 | nd | 14/22 |
| Hearing loss | – | 3/3 | nd | nd | 5/13 | 1/2 | 9/18 |
| Frequent infectionsa | – | 3/3 | 0/1 | 0/1 | 3/8 | nd | 6/13 |
| Congenital heart diseasesb | – | 2/2 | nd | nd | 1/2 | nd | 3/4 |
| Pulmonary stenosisc | – | 1/1 | nd | nd | 3/4 | nd | 4/5 |
| Ovarian cystsd | – | nd | nd | na | 8/9 | na | 8/9 |
IUGR intrauterine growth restriction; occipitofrontal circumference; SHORT short stature (S), hyperextensibility of joints (H), ocular depression (O), Rieger abnormality (R) and teething delay (T); na not applicable; and nd no data
a Frequent infections include respiratory infection, pneumonia, and urinary infection
b Congenital heart diseases include mitral dysplasia, and ventricular septal defect
c This contains a case of pulmonary hypertension
d This contains a case of Ovarian cancer