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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