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Table 2 Clinical Features of the patient and reported SHORT patients with Mutations in PIK3R1

From: A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

  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
  1. 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
  2. a Frequent infections include respiratory infection, pneumonia, and urinary infection
  3. b Congenital heart diseases include mitral dysplasia, and ventricular septal defect
  4. c This contains a case of pulmonary hypertension
  5. d This contains a case of Ovarian cancer